Canonical Allele Identifier: CA2810127902

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941821del , CM000679.2:g.63941821del	GRCh38
NC_000017.10:g.62019181del , CM000679.1:g.62019181del	GRCh37
NC_000017.9:g.59372913del	NCBI36
NG_011699.1:g.36099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4462del MANE Select	ENSP00000396320.1:p.Leu1488SerfsTer?
ENST00000578147.5:c.4462del	ENSP00000463963.1:p.Leu1488SerfsTer?
NM_000334.4:c.4462del MANE Select	NP_000325.4:p.Leu1488SerfsTer?
XM_005257566.3:c.4462del	XP_005257623.1:p.Leu1488SerfsTer?