Canonical Allele Identifier: CA2270161415

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942315_63942317delinsGAC , CM000679.2:g.63942315_63942317delinsGAC	GRCh38
NC_000017.10:g.62019675_62019677delinsGAC , CM000679.1:g.62019675_62019677delinsGAC	GRCh37
NC_000017.9:g.59373407_59373409delinsGAC	NCBI36
NG_011699.1:g.35602_35604delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-324_4289-322delinsGTC MANE Select	ENSP00000396320.1:n.4289-324_4289-322delinsGTC
ENST00000578147.5:c.4289-324_4289-322delinsGTC	ENSP00000463963.1:n.4289-324_4289-322delinsGTC
NM_000334.4:c.4289-324_4289-322delinsGTC MANE Select	NP_000325.4:n.4289-324_4289-322delinsGTC
XM_005257566.3:c.4289-324_4289-322delinsGTC	XP_005257623.1:n.4289-324_4289-322delinsGTC