Canonical Allele Identifier: CA2697559110
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2749108
ClinVar RCV Id: RCV003509406

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718003_12718004delinsTA , CM000674.2:g.12718003_12718004delinsTA GRCh38
NC_000012.11:g.12870937_12870938delinsTA , CM000674.1:g.12870937_12870938delinsTA GRCh37
NC_000012.10:g.12762204_12762205delinsTA NCBI36
NG_016341.1:g.5636_5637delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.164_165delinsTA ENSP00000507272.1:p.Ala55Val
ENST00000682620.1:n.1631-822_1631-821delinsTA
ENST00000684771.1:n.585-822_585-821delinsTA
ENST00000228872.9:c.164_165delinsTA MANE Select ENSP00000228872.4:p.Ala55Val
ENST00000228872.8:c.164_165delinsTA ENSP00000228872.4:p.Ala55Val
ENST00000396340.1:c.164_165delinsTA ENSP00000379629.1:p.Ala55Val
ENST00000442489.1:c.143_144delinsTA ENSP00000407597.1:p.Ala48Val
ENST00000477087.1:n.155-822_155-821delinsTA
NM_004064.4:c.164_165delinsTA NP_004055.1:p.Ala55Val
NM_004064.5:c.164_165delinsTA MANE Select NP_004055.1:p.Ala55Val