Canonical Allele Identifier: CA2270163834

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947204_63947205delinsGC , CM000679.2:g.63947204_63947205delinsGC	GRCh38
NC_000017.10:g.62024564_62024565delinsGC , CM000679.1:g.62024564_62024565delinsGC	GRCh37
NC_000017.9:g.59378296_59378297delinsGC	NCBI36
NG_011699.1:g.30714_30715delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3319-38_3319-37delinsGC MANE Select	ENSP00000396320.1:n.3319-38_3319-37delinsGC
ENST00000578147.5:c.3319-38_3319-37delinsGC	ENSP00000463963.1:n.3319-38_3319-37delinsGC
NM_000334.4:c.3319-38_3319-37delinsGC MANE Select	NP_000325.4:n.3319-38_3319-37delinsGC
XM_005257566.3:c.3319-38_3319-37delinsGC	XP_005257623.1:n.3319-38_3319-37delinsGC