Canonical Allele Identifier: CA2810127870

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGGCCCCTCACCCCCCCCCCCCC , CM000679.2:g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGGCCCCTCACCCCCCCCCCCCC	GRCh38
NC_000017.10:g.62024367_62024368insCAACCCCCCCCCCCCCCCAGGGCCCCTCACCCCCCCCCCCCC , CM000679.1:g.62024367_62024368insCAACCCCCCCCCCCCCCCAGGGCCCCTCACCCCCCCCCCCCC	GRCh37
NC_000017.9:g.59378099_59378100insCAACCCCCCCCCCCCCCCAGGGCCCCTCACCCCCCCCCCCCC	NCBI36
NG_011699.1:g.30916_30917insGGGGGGGGTGAGGGGCCCTGGGGGGGGGGGGGGGTTGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+42_3441+43insGGGGGGGGTGAGGGGCCCTGGGGGGGGGGGGGGGTTGGGGGG MANE Select	ENSP00000396320.1:n.3441+42_3441+43insGGGGGGGGTGAGGGGCCCTGGGG...
ENST00000578147.5:c.3441+42_3441+43insGGGGGGGGTGAGGGGCCCTGGGGGGGGGGGGGGGTTGGGGGG	ENSP00000463963.1:n.3441+42_3441+43insGGGGGGGGTGAGGGGCCCTGGGG...
NM_000334.4:c.3441+42_3441+43insGGGGGGGGTGAGGGGCCCTGGGGGGGGGGGGGGGTTGGGGGG MANE Select	NP_000325.4:n.3441+42_3441+43insGGGGGGGGTGAGGGGCCCTGGGGGGGGGG...
XM_005257566.3:c.3441+42_3441+43insGGGGGGGGTGAGGGGCCCTGGGGGGGGGGGGGGGTTGGGGGG	XP_005257623.1:n.3441+42_3441+43insGGGGGGGGTGAGGGGCCCTGGGGGGG...