Canonical Allele Identifier: CA2270162413

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944369_63944370delinsTG , CM000679.2:g.63944369_63944370delinsTG	GRCh38
NC_000017.10:g.62021729_62021730delinsTG , CM000679.1:g.62021729_62021730delinsTG	GRCh37
NC_000017.9:g.59375461_59375462delinsTG	NCBI36
NG_011699.1:g.33549_33550delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+303_3912+304delinsCA MANE Select	ENSP00000396320.1:n.3912+303_3912+304delinsCA
ENST00000578147.5:c.3916+299_3916+300delinsCA	ENSP00000463963.1:n.3916+299_3916+300delinsCA
NM_000334.4:c.3912+303_3912+304delinsCA MANE Select	NP_000325.4:n.3912+303_3912+304delinsCA
XM_005257566.3:c.3912+303_3912+304delinsCA	XP_005257623.1:n.3912+303_3912+304delinsCA