Canonical Allele Identifier: CA2270161403

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942303_63942307delinsCAGAG , CM000679.2:g.63942303_63942307delinsCAGAG	GRCh38
NC_000017.10:g.62019663_62019667delinsCAGAG , CM000679.1:g.62019663_62019667delinsCAGAG	GRCh37
NC_000017.9:g.59373395_59373399delinsCAGAG	NCBI36
NG_011699.1:g.35612_35616delinsCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-314_4289-310delinsCTCTG MANE Select	ENSP00000396320.1:n.4289-314_4289-310delinsCTCTG
ENST00000578147.5:c.4289-314_4289-310delinsCTCTG	ENSP00000463963.1:n.4289-314_4289-310delinsCTCTG
NM_000334.4:c.4289-314_4289-310delinsCTCTG MANE Select	NP_000325.4:n.4289-314_4289-310delinsCTCTG
XM_005257566.3:c.4289-314_4289-310delinsCTCTG	XP_005257623.1:n.4289-314_4289-310delinsCTCTG