Canonical Allele Identifier: CA2841434471

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942820_63942821del , CM000679.2:g.63942820_63942821del	GRCh38
NC_000017.10:g.62020180_62020181del , CM000679.1:g.62020180_62020181del	GRCh37
NC_000017.9:g.59373912_59373913del	NCBI36
NG_011699.1:g.35099_35100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4288+6_4288+7del MANE Select	ENSP00000396320.1:n.4288+6_4288+7del
ENST00000578147.5:c.4288+6_4288+7del	ENSP00000463963.1:n.4288+6_4288+7del
NM_000334.4:c.4288+6_4288+7del MANE Select	NP_000325.4:n.4288+6_4288+7del
XM_005257566.3:c.4288+6_4288+7del	XP_005257623.1:n.4288+6_4288+7del