Canonical Allele Identifier: CA16613548
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 404271
ClinVar RCV Id: RCV000464899
dbSNP Id: rs1060500188

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718284_12718285delinsTT , CM000674.2:g.12718284_12718285delinsTT GRCh38
NC_000012.11:g.12871218_12871219delinsTT , CM000674.1:g.12871218_12871219delinsTT GRCh37
NC_000012.10:g.12762485_12762486delinsTT NCBI36
NG_016341.1:g.5917_5918delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.445_446delinsTT ENSP00000507272.1:p.Ala149Leu
ENST00000682620.1:n.1631-541_1631-540delinsTT
ENST00000684771.1:n.585-541_585-540delinsTT
ENST00000228872.9:c.445_446delinsTT MANE Select ENSP00000228872.4:p.Ala149Leu
ENST00000228872.8:c.445_446delinsTT ENSP00000228872.4:p.Ala149Leu
ENST00000396340.1:c.445_446delinsTT ENSP00000379629.1:p.Ala149Leu
ENST00000442489.1:c.193+231_193+232delinsTT ENSP00000407597.1:n.193+231_193+232delinsTT
ENST00000477087.1:n.155-541_155-540delinsTT
NM_004064.4:c.445_446delinsTT NP_004055.1:p.Ala149Leu
NM_004064.5:c.445_446delinsTT MANE Select NP_004055.1:p.Ala149Leu