Canonical Allele Identifier: CA2270162391

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944319_63944320delinsAT , CM000679.2:g.63944319_63944320delinsAT	GRCh38
NC_000017.10:g.62021679_62021680delinsAT , CM000679.1:g.62021679_62021680delinsAT	GRCh37
NC_000017.9:g.59375411_59375412delinsAT	NCBI36
NG_011699.1:g.33599_33600delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+353_3912+354delinsAT MANE Select	ENSP00000396320.1:n.3912+353_3912+354delinsAT
ENST00000578147.5:c.3916+349_3916+350delinsAT	ENSP00000463963.1:n.3916+349_3916+350delinsAT
NM_000334.4:c.3912+353_3912+354delinsAT MANE Select	NP_000325.4:n.3912+353_3912+354delinsAT
XM_005257566.3:c.3912+353_3912+354delinsAT	XP_005257623.1:n.3912+353_3912+354delinsAT