Canonical Allele Identifier: CA2270163838

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947214_63947215delinsTC , CM000679.2:g.63947214_63947215delinsTC	GRCh38
NC_000017.10:g.62024574_62024575delinsTC , CM000679.1:g.62024574_62024575delinsTC	GRCh37
NC_000017.9:g.59378306_59378307delinsTC	NCBI36
NG_011699.1:g.30704_30705delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3319-48_3319-47delinsGA MANE Select	ENSP00000396320.1:n.3319-48_3319-47delinsGA
ENST00000578147.5:c.3319-48_3319-47delinsGA	ENSP00000463963.1:n.3319-48_3319-47delinsGA
NM_000334.4:c.3319-48_3319-47delinsGA MANE Select	NP_000325.4:n.3319-48_3319-47delinsGA
XM_005257566.3:c.3319-48_3319-47delinsGA	XP_005257623.1:n.3319-48_3319-47delinsGA