Canonical Allele Identifier: CA2573147863
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1511938
ClinVar RCV Id: RCV002020662
dbSNP Id: rs2136356150

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718164_12718165delinsAG , CM000674.2:g.12718164_12718165delinsAG GRCh38
NC_000012.11:g.12871098_12871099delinsAG , CM000674.1:g.12871098_12871099delinsAG GRCh37
NC_000012.10:g.12762365_12762366delinsAG NCBI36
NG_016341.1:g.5797_5798delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.325_326delinsAG ENSP00000507272.1:p.Val109Ser
ENST00000682620.1:n.1631-661_1631-660delinsAG
ENST00000684771.1:n.585-661_585-660delinsAG
ENST00000228872.9:c.325_326delinsAG MANE Select ENSP00000228872.4:p.Val109Ser
ENST00000228872.8:c.325_326delinsAG ENSP00000228872.4:p.Val109Ser
ENST00000396340.1:c.325_326delinsAG ENSP00000379629.1:p.Val109Ser
ENST00000442489.1:c.193+111_193+112delinsAG ENSP00000407597.1:n.193+111_193+112delins...
ENST00000477087.1:n.155-661_155-660delinsAG
NM_004064.4:c.325_326delinsAG NP_004055.1:p.Val109Ser
NM_004064.5:c.325_326delinsAG MANE Select NP_004055.1:p.Val109Ser