Canonical Allele Identifier: CA2580085210
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2450790
ClinVar RCV Id: RCV003177206

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718267delinsTAA , CM000674.2:g.12718267delinsTAA GRCh38
NC_000012.11:g.12871201delinsTAA , CM000674.1:g.12871201delinsTAA GRCh37
NC_000012.10:g.12762468delinsTAA NCBI36
NG_016341.1:g.5900delinsTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.428delinsTAA ENSP00000507272.1:p.Gly143ValfsTer3
ENST00000682620.1:n.1631-558delinsTAA
ENST00000684771.1:n.585-558delinsTAA
ENST00000228872.9:c.428delinsTAA MANE Select ENSP00000228872.4:p.Gly143ValfsTer3
ENST00000228872.8:c.428delinsTAA ENSP00000228872.4:p.Gly143ValfsTer3
ENST00000396340.1:c.428delinsTAA ENSP00000379629.1:p.Gly143ValfsTer3
ENST00000442489.1:c.193+214delinsTAA ENSP00000407597.1:n.193+214delinsTAA
ENST00000477087.1:n.155-558delinsTAA
NM_004064.4:c.428delinsTAA NP_004055.1:p.Gly143ValfsTer3
NM_004064.5:c.428delinsTAA MANE Select NP_004055.1:p.Gly143ValfsTer3