Canonical Allele Identifier: CA2810126995

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942262_63942270del , CM000679.2:g.63942262_63942270del	GRCh38
NC_000017.10:g.62019622_62019630del , CM000679.1:g.62019622_62019630del	GRCh37
NC_000017.9:g.59373354_59373362del	NCBI36
NG_011699.1:g.35649_35657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-277_4289-269del MANE Select	ENSP00000396320.1:n.4289-277_4289-269del
ENST00000578147.5:c.4289-277_4289-269del	ENSP00000463963.1:n.4289-277_4289-269del
NM_000334.4:c.4289-277_4289-269del MANE Select	NP_000325.4:n.4289-277_4289-269del
XM_005257566.3:c.4289-277_4289-269del	XP_005257623.1:n.4289-277_4289-269del