Canonical Allele Identifier: CA2573147862
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1386042
ClinVar RCV Id: RCV001905666
dbSNP Id: rs2136355920

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718106_12718107del , CM000674.2:g.12718106_12718107del GRCh38
NC_000012.11:g.12871040_12871041del , CM000674.1:g.12871040_12871041del GRCh37
NC_000012.10:g.12762307_12762308del NCBI36
NG_016341.1:g.5739_5740del

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.267_268del ENSP00000507272.1:p.Tyr89Ter
ENST00000682620.1:n.1631-719_1631-718del
ENST00000684771.1:n.585-719_585-718del
ENST00000228872.9:c.267_268del MANE Select ENSP00000228872.4:p.Tyr89Ter
ENST00000228872.8:c.267_268del ENSP00000228872.4:p.Tyr89Ter
ENST00000396340.1:c.267_268del ENSP00000379629.1:p.Tyr89Ter
ENST00000442489.1:c.193+53_193+54del ENSP00000407597.1:n.193+53_193+54del
ENST00000477087.1:n.155-719_155-718del
NM_004064.4:c.267_268del NP_004055.1:p.Tyr89Ter
NM_004064.5:c.267_268del MANE Select NP_004055.1:p.Tyr89Ter