Canonical Allele Identifier: CA2499221483
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1075662
ClinVar RCV Id: RCV001389331
dbSNP Id: rs2136355706
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718013del , CM000674.2:g.12718013del GRCh38
NC_000012.11:g.12870947del , CM000674.1:g.12870947del GRCh37
NC_000012.10:g.12762214del NCBI36
NG_016341.1:g.5646del

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.174del ENSP00000507272.1:p.Lys59SerfsTer12
ENST00000682620.1:n.1631-812del
ENST00000684771.1:n.585-812del
ENST00000228872.9:c.174del MANE Select ENSP00000228872.4:p.Lys59SerfsTer12
ENST00000228872.8:c.174del ENSP00000228872.4:p.Lys59SerfsTer12
ENST00000396340.1:c.174del ENSP00000379629.1:p.Lys59SerfsTer12
ENST00000442489.1:c.153del ENSP00000407597.1:p.Lys52SerfsTer12
ENST00000477087.1:n.155-812del
NM_004064.4:c.174del NP_004055.1:p.Lys59SerfsTer12
NM_004064.5:c.174del MANE Select NP_004055.1:p.Lys59SerfsTer12
Search 100 bp 5'
Search 100 bp 3'