Canonical Allele Identifier: CA2588340821

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942258_63942268delinsGGTGTGTGTGT , CM000679.2:g.63942258_63942268delinsGGTGTGTGTGT	GRCh38
NC_000017.10:g.62019618_62019628delinsGGTGTGTGTGT , CM000679.1:g.62019618_62019628delinsGGTGTGTGTGT	GRCh37
NC_000017.9:g.59373350_59373360delinsGGTGTGTGTGT	NCBI36
NG_011699.1:g.35651_35661delinsACACACACACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-275_4289-265delinsACACACACACC MANE Select	ENSP00000396320.1:n.4289-275_4289-265delinsACACACACACC
ENST00000578147.5:c.4289-275_4289-265delinsACACACACACC	ENSP00000463963.1:n.4289-275_4289-265delinsACACACACACC
NM_000334.4:c.4289-275_4289-265delinsACACACACACC MANE Select	NP_000325.4:n.4289-275_4289-265delinsACACACACACC
XM_005257566.3:c.4289-275_4289-265delinsACACACACACC	XP_005257623.1:n.4289-275_4289-265delinsACACACACACC