Canonical Allele Identifier: CA2810127372

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944568_63944584del , CM000679.2:g.63944568_63944584del	GRCh38
NC_000017.10:g.62021928_62021944del , CM000679.1:g.62021928_62021944del	GRCh37
NC_000017.9:g.59375660_59375676del	NCBI36
NG_011699.1:g.33337_33353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+91_3912+107del MANE Select	ENSP00000396320.1:n.3912+91_3912+107del
ENST00000578147.5:c.3916+87_3916+103del	ENSP00000463963.1:n.3916+87_3916+103del
NM_000334.4:c.3912+91_3912+107del MANE Select	NP_000325.4:n.3912+91_3912+107del
XM_005257566.3:c.3912+91_3912+107del	XP_005257623.1:n.3912+91_3912+107del