Canonical Allele Identifier: CA2270161438

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942348_63942350delinsACT , CM000679.2:g.63942348_63942350delinsACT	GRCh38
NC_000017.10:g.62019708_62019710delinsACT , CM000679.1:g.62019708_62019710delinsACT	GRCh37
NC_000017.9:g.59373440_59373442delinsACT	NCBI36
NG_011699.1:g.35569_35571delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-357_4289-355delinsAGT MANE Select	ENSP00000396320.1:n.4289-357_4289-355delinsAGT
ENST00000578147.5:c.4289-357_4289-355delinsAGT	ENSP00000463963.1:n.4289-357_4289-355delinsAGT
NM_000334.4:c.4289-357_4289-355delinsAGT MANE Select	NP_000325.4:n.4289-357_4289-355delinsAGT
XM_005257566.3:c.4289-357_4289-355delinsAGT	XP_005257623.1:n.4289-357_4289-355delinsAGT