Canonical Allele Identifier: CA2270175555
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971846_63971849delinsTGTA , CM000679.2:g.63971846_63971849delinsTGTA GRCh38
NC_000017.10:g.62049206_62049209delinsTGTA , CM000679.1:g.62049206_62049209delinsTGTA GRCh37
NC_000017.9:g.59402938_59402941delinsTGTA NCBI36
NG_011699.1:g.6070_6073delinsTACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.484_487delinsTACA MANE Select ENSP00000396320.1:p.Tyr162=
ENST00000578147.5:c.484_487delinsTACA ENSP00000463963.1:p.Tyr162=
NM_000334.4:c.484_487delinsTACA MANE Select NP_000325.4:p.Tyr162=
XM_005257566.3:c.484_487delinsTACA XP_005257623.1:p.Tyr162=
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