Canonical Allele Identifier: CA10588845
Gene:

Linked Data

dbSNP Id: rs369390009

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.644920_644921dup , CM000686.2:g.644920_644921dup GRCh38
NC_000024.9:g.555655_555656dup , CM000686.1:g.555655_555656dup GRCh37
NC_000024.8:g.525655_525656dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711141.1:c.633+3833_633+3834dup ENSP00000518639.1:n.633+3833_633+3834dup
ENST00000711142.1:c.*284_*285dup ENSP00000518640.1:n.*284_*285dup
ENST00000711143.1:c.633+3833_633+3834dup ENSP00000518641.1:n.633+3833_633+3834dup
ENST00000711145.1:c.*284_*285dup ENSP00000518642.1:n.*284_*285dup