Canonical Allele Identifier: CA2639314441
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947007_63947008insCAACCCCCCCCC , CM000679.2:g.63947007_63947008insCAACCCCCCCCC GRCh38
NC_000017.10:g.62024367_62024368insCAACCCCCCCCC , CM000679.1:g.62024367_62024368insCAACCCCCCCCC GRCh37
NC_000017.9:g.59378099_59378100insCAACCCCCCCCC NCBI36
NG_011699.1:g.30916_30917insGGGGTTGGGGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.3441+42_3441+43insGGGGTTGGGGGG MANE Select ENSP00000396320.1:n.3441+42_3441+43insGGG...
ENST00000578147.5:c.3441+42_3441+43insGGGGTTGGGGGG ENSP00000463963.1:n.3441+42_3441+43insGGG...
NM_000334.4:c.3441+42_3441+43insGGGGTTGGGGGG MANE Select NP_000325.4:n.3441+42_3441+43insGGGGTTGGG...
XM_005257566.3:c.3441+42_3441+43insGGGGTTGGGGGG XP_005257623.1:n.3441+42_3441+43insGGGGTT...