Canonical Allele Identifier: CA2270162594

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944640_63944641delinsCG , CM000679.2:g.63944640_63944641delinsCG	GRCh38
NC_000017.10:g.62022000_62022001delinsCG , CM000679.1:g.62022000_62022001delinsCG	GRCh37
NC_000017.9:g.59375732_59375733delinsCG	NCBI36
NG_011699.1:g.33278_33279delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+32_3912+33delinsCG MANE Select	ENSP00000396320.1:n.3912+32_3912+33delinsCG
ENST00000578147.5:c.3916+28_3916+29delinsCG	ENSP00000463963.1:n.3916+28_3916+29delinsCG
NM_000334.4:c.3912+32_3912+33delinsCG MANE Select	NP_000325.4:n.3912+32_3912+33delinsCG
XM_005257566.3:c.3912+32_3912+33delinsCG	XP_005257623.1:n.3912+32_3912+33delinsCG