Canonical Allele Identifier: CA2573147861
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1405782
ClinVar RCV Id: RCV001935258
dbSNP Id: rs2136355842

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718065_12718066insA , CM000674.2:g.12718065_12718066insA GRCh38
NC_000012.11:g.12870999_12871000insA , CM000674.1:g.12870999_12871000insA GRCh37
NC_000012.10:g.12762266_12762267insA NCBI36
NG_016341.1:g.5698_5699insA

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.226_227insA ENSP00000507272.1:p.Trp76Ter
ENST00000682620.1:n.1631-760_1631-759insA
ENST00000684771.1:n.585-760_585-759insA
ENST00000228872.9:c.226_227insA MANE Select ENSP00000228872.4:p.Trp76Ter
ENST00000228872.8:c.226_227insA ENSP00000228872.4:p.Trp76Ter
ENST00000396340.1:c.226_227insA ENSP00000379629.1:p.Trp76Ter
ENST00000442489.1:c.193+12_193+13insA ENSP00000407597.1:n.193+12_193+13insA
ENST00000477087.1:n.155-760_155-759insA
NM_004064.4:c.226_227insA NP_004055.1:p.Trp76Ter
NM_004064.5:c.226_227insA MANE Select NP_004055.1:p.Trp76Ter