Canonical Allele Identifier: CA2639314309
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCCAAAACACCCCCCCCCC , CM000679.2:g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCCAAAACACCCCCCCCCC GRCh38
NC_000017.10:g.62024367_62024368insCAACCCCCCCCCCCCCCCAGGCCCCCAAAACACCCCCCCCCC , CM000679.1:g.62024367_62024368insCAACCCCCCCCCCCCCCCAGGCCCCCAAAACACCCCCCCCCC GRCh37
NC_000017.9:g.59378099_59378100insCAACCCCCCCCCCCCCCCAGGCCCCCAAAACACCCCCCCCCC NCBI36
NG_011699.1:g.30916_30917insGGGGGTGTTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3441+42_3441+43insGGGGGTGTTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG MANE Select ENSP00000396320.1:n.3441+42_3441+43insGGGGGTGTTTTGGGGGCCTGGGG...
ENST00000578147.5:c.3441+42_3441+43insGGGGGTGTTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG ENSP00000463963.1:n.3441+42_3441+43insGGGGGTGTTTTGGGGGCCTGGGG...
NM_000334.4:c.3441+42_3441+43insGGGGGTGTTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG MANE Select NP_000325.4:n.3441+42_3441+43insGGGGGTGTTTTGGGGGCCTGGGGGGGGGG...
XM_005257566.3:c.3441+42_3441+43insGGGGGTGTTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG XP_005257623.1:n.3441+42_3441+43insGGGGGTGTTTTGGGGGCCTGGGGGGG...