Canonical Allele Identifier: CA1139662514
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 947479
ClinVar RCV Id: RCV001218565
dbSNP Id: rs1946488462

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717941_12717944del , CM000674.2:g.12717941_12717944del GRCh38
NC_000012.11:g.12870875_12870878del , CM000674.1:g.12870875_12870878del GRCh37
NC_000012.10:g.12762142_12762145del NCBI36
NG_016341.1:g.5574_5577del

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.102_105del ENSP00000507272.1:p.Pro35TrpfsTer6
ENST00000682620.1:n.1631-884_1631-881del
ENST00000684771.1:n.585-884_585-881del
ENST00000228872.9:c.102_105del MANE Select ENSP00000228872.4:p.Pro35TrpfsTer6
ENST00000228872.8:c.102_105del ENSP00000228872.4:p.Pro35TrpfsTer6
ENST00000396340.1:c.102_105del ENSP00000379629.1:p.Pro35TrpfsTer6
ENST00000442489.1:c.81_84del ENSP00000407597.1:p.Pro28TrpfsTer6
ENST00000477087.1:n.155-884_155-881del
NM_004064.4:c.102_105del NP_004055.1:p.Pro35TrpfsTer6
NM_004064.5:c.102_105del MANE Select NP_004055.1:p.Pro35TrpfsTer6