Canonical Allele Identifier: CA2270175660

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972033_63972035delinsAGT , CM000679.2:g.63972033_63972035delinsAGT	GRCh38
NC_000017.10:g.62049393_62049395delinsAGT , CM000679.1:g.62049393_62049395delinsAGT	GRCh37
NC_000017.9:g.59403125_59403127delinsAGT	NCBI36
NG_011699.1:g.5884_5886delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.482+101_482+103delinsACT MANE Select	ENSP00000396320.1:n.482+101_482+103delinsACT
ENST00000578147.5:c.482+101_482+103delinsACT	ENSP00000463963.1:n.482+101_482+103delinsACT
NM_000334.4:c.482+101_482+103delinsACT MANE Select	NP_000325.4:n.482+101_482+103delinsACT
XM_005257566.3:c.482+101_482+103delinsACT	XP_005257623.1:n.482+101_482+103delinsACT