Canonical Allele Identifier: CA2270161417

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942317_63942323delinsCAGAGAG , CM000679.2:g.63942317_63942323delinsCAGAGAG	GRCh38
NC_000017.10:g.62019677_62019683delinsCAGAGAG , CM000679.1:g.62019677_62019683delinsCAGAGAG	GRCh37
NC_000017.9:g.59373409_59373415delinsCAGAGAG	NCBI36
NG_011699.1:g.35596_35602delinsCTCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-330_4289-324delinsCTCTCTG MANE Select	ENSP00000396320.1:n.4289-330_4289-324delinsCTCTCTG
ENST00000578147.5:c.4289-330_4289-324delinsCTCTCTG	ENSP00000463963.1:n.4289-330_4289-324delinsCTCTCTG
NM_000334.4:c.4289-330_4289-324delinsCTCTCTG MANE Select	NP_000325.4:n.4289-330_4289-324delinsCTCTCTG
XM_005257566.3:c.4289-330_4289-324delinsCTCTCTG	XP_005257623.1:n.4289-330_4289-324delinsCTCTCTG