Canonical Allele Identifier: CA2580085209
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2018951
ClinVar RCV Id: RCV002846739
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718252_12718253dup , CM000674.2:g.12718252_12718253dup GRCh38
NC_000012.11:g.12871186_12871187dup , CM000674.1:g.12871186_12871187dup GRCh37
NC_000012.10:g.12762453_12762454dup NCBI36
NG_016341.1:g.5885_5886dup

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.413_414dup ENSP00000507272.1:p.Asp139ArgfsTer7
ENST00000682620.1:n.1631-573_1631-572dup
ENST00000684771.1:n.585-573_585-572dup
ENST00000228872.9:c.413_414dup MANE Select ENSP00000228872.4:p.Asp139ArgfsTer7
ENST00000228872.8:c.413_414dup ENSP00000228872.4:p.Asp139ArgfsTer7
ENST00000396340.1:c.413_414dup ENSP00000379629.1:p.Asp139ArgfsTer7
ENST00000442489.1:c.193+199_193+200dup ENSP00000407597.1:n.193+199_193+200dup
ENST00000477087.1:n.155-573_155-572dup
NM_004064.4:c.413_414dup NP_004055.1:p.Asp139ArgfsTer7
NM_004064.5:c.413_414dup MANE Select NP_004055.1:p.Asp139ArgfsTer7
Search 100 bp 5'
Search 100 bp 3'