Canonical Allele Identifier: CA2270162401

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944340_63944341delinsTA , CM000679.2:g.63944340_63944341delinsTA	GRCh38
NC_000017.10:g.62021700_62021701delinsTA , CM000679.1:g.62021700_62021701delinsTA	GRCh37
NC_000017.9:g.59375432_59375433delinsTA	NCBI36
NG_011699.1:g.33578_33579delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+332_3912+333delinsTA MANE Select	ENSP00000396320.1:n.3912+332_3912+333delinsTA
ENST00000578147.5:c.3916+328_3916+329delinsTA	ENSP00000463963.1:n.3916+328_3916+329delinsTA
NM_000334.4:c.3912+332_3912+333delinsTA MANE Select	NP_000325.4:n.3912+332_3912+333delinsTA
XM_005257566.3:c.3912+332_3912+333delinsTA	XP_005257623.1:n.3912+332_3912+333delinsTA