Canonical Allele Identifier: CA2270163874

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947290_63947303delinsGGGTGGTCCTGTCC , CM000679.2:g.63947290_63947303delinsGGGTGGTCCTGTCC	GRCh38
NC_000017.10:g.62024650_62024663delinsGGGTGGTCCTGTCC , CM000679.1:g.62024650_62024663delinsGGGTGGTCCTGTCC	GRCh37
NC_000017.9:g.59378382_59378395delinsGGGTGGTCCTGTCC	NCBI36
NG_011699.1:g.30616_30629delinsGGACAGGACCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3319-136_3319-123delinsGGACAGGACCACCC MANE Select	ENSP00000396320.1:n.3319-136_3319-123delinsGGACAGGACCACCC
ENST00000578147.5:c.3319-136_3319-123delinsGGACAGGACCACCC	ENSP00000463963.1:n.3319-136_3319-123delinsGGACAGGACCACCC
NM_000334.4:c.3319-136_3319-123delinsGGACAGGACCACCC MANE Select	NP_000325.4:n.3319-136_3319-123delinsGGACAGGACCACCC
XM_005257566.3:c.3319-136_3319-123delinsGGACAGGACCACCC	XP_005257623.1:n.3319-136_3319-123delinsGGACAGGACCACCC