In [1]:
import hgvs.parser
import hgvs.dataproviders.uta
import hgvs.variantmapper
In [2]:
hp = hgvs.parser.Parser()
hdp = hgvs.dataproviders.uta.connect()
am = hgvs.variantmapper.AssemblyMapper(hdp,
assembly_name='GRCh37',
alt_aln_method='splign')
In [3]:
g_hgvs = 'NC_000001.10:g.150550916_150550920delGACAAinsCAATACC'
g_var = hp.parse_hgvs_variant(g_hgvs)
c_var = am.g_to_c(g_var, 'NM_182763.2')
p_var = am.c_to_p(c_var)
In [4]:
g_var, c_var, p_var
Out[4]:
In [5]:
[str(v) for v in (g_var, c_var, p_var)]
Out[5]:
In [6]:
import hgvs.normalizer
hn = hgvs.normalizer.Normalizer(hdp)
hn.normalize(hp.parse_hgvs_variant('NM_021960.4:c.735_736insT'))
Out[6]:
In [7]:
import hgvs.validator
hv = hgvs.validator.Validator(hdp)
try:
hv.validate(hp.parse_hgvs_variant('NM_021960.4:c.736_740delATGTCinsGGTATTG'))
except Exception as e:
print(e)
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