Canonical Allele Identifier: CA2580085182
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2444896
ClinVar RCV Id: RCV003154606

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718055dup , CM000674.2:g.12718055dup GRCh38
NC_000012.11:g.12870989dup , CM000674.1:g.12870989dup GRCh37
NC_000012.10:g.12762256dup NCBI36
NG_016341.1:g.5688dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.216dup ENSP00000507272.1:p.Lys73GlnfsTer?
ENST00000682620.1:n.1631-770dup
ENST00000684771.1:n.585-770dup
ENST00000228872.9:c.216dup MANE Select ENSP00000228872.4:p.Lys73GlnfsTer?
ENST00000228872.8:c.216dup ENSP00000228872.4:p.Lys73GlnfsTer?
ENST00000396340.1:c.216dup ENSP00000379629.1:p.Lys73GlnfsTer?
ENST00000442489.1:c.193+2dup ENSP00000407597.1:n.193+2dup
ENST00000477087.1:n.155-770dup
NM_004064.4:c.216dup NP_004055.1:p.Lys73GlnfsTer?
NM_004064.5:c.216dup MANE Select NP_004055.1:p.Lys73GlnfsTer?