Canonical Allele Identifier: CA2270161378

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942272_63942273delinsTG , CM000679.2:g.63942272_63942273delinsTG	GRCh38
NC_000017.10:g.62019632_62019633delinsTG , CM000679.1:g.62019632_62019633delinsTG	GRCh37
NC_000017.9:g.59373364_59373365delinsTG	NCBI36
NG_011699.1:g.35646_35647delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-280_4289-279delinsCA MANE Select	ENSP00000396320.1:n.4289-280_4289-279delinsCA
ENST00000578147.5:c.4289-280_4289-279delinsCA	ENSP00000463963.1:n.4289-280_4289-279delinsCA
NM_000334.4:c.4289-280_4289-279delinsCA MANE Select	NP_000325.4:n.4289-280_4289-279delinsCA
XM_005257566.3:c.4289-280_4289-279delinsCA	XP_005257623.1:n.4289-280_4289-279delinsCA