Canonical Allele Identifier: CA2810127889

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCTCCACACCCCCCCCCCA , CM000679.2:g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCTCCACACCCCCCCCCCA	GRCh38
NC_000017.10:g.62024368_62024369insAACCCCCCCCCCCCCCCAGGCCCCCTCCACACCCCCCCCCCA , CM000679.1:g.62024368_62024369insAACCCCCCCCCCCCCCCAGGCCCCCTCCACACCCCCCCCCCA	GRCh37
NC_000017.9:g.59378100_59378101insAACCCCCCCCCCCCCCCAGGCCCCCTCCACACCCCCCCCCCA	NCBI36
NG_011699.1:g.30916_30917insGGGGGTGTGGAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+42_3441+43insGGGGGTGTGGAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG MANE Select	ENSP00000396320.1:n.3441+42_3441+43insGGGGGTGTGGAGGGGGCCTGGGG...
ENST00000578147.5:c.3441+42_3441+43insGGGGGTGTGGAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG	ENSP00000463963.1:n.3441+42_3441+43insGGGGGTGTGGAGGGGGCCTGGGG...
NM_000334.4:c.3441+42_3441+43insGGGGGTGTGGAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG MANE Select	NP_000325.4:n.3441+42_3441+43insGGGGGTGTGGAGGGGGCCTGGGGGGGGGG...
XM_005257566.3:c.3441+42_3441+43insGGGGGTGTGGAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG	XP_005257623.1:n.3441+42_3441+43insGGGGGTGTGGAGGGGGCCTGGGGGGG...