Canonical Allele Identifier: CA2270161360

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942260_63942271delinsTGTGTGTGTGTG , CM000679.2:g.63942260_63942271delinsTGTGTGTGTGTG	GRCh38
NC_000017.10:g.62019620_62019631delinsTGTGTGTGTGTG , CM000679.1:g.62019620_62019631delinsTGTGTGTGTGTG	GRCh37
NC_000017.9:g.59373352_59373363delinsTGTGTGTGTGTG	NCBI36
NG_011699.1:g.35648_35659delinsCACACACACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-278_4289-267delinsCACACACACACA MANE Select	ENSP00000396320.1:n.4289-278_4289-267delinsCACACACACACA
ENST00000578147.5:c.4289-278_4289-267delinsCACACACACACA	ENSP00000463963.1:n.4289-278_4289-267delinsCACACACACACA
NM_000334.4:c.4289-278_4289-267delinsCACACACACACA MANE Select	NP_000325.4:n.4289-278_4289-267delinsCACACACACACA
XM_005257566.3:c.4289-278_4289-267delinsCACACACACACA	XP_005257623.1:n.4289-278_4289-267delinsCACACACACACA