Canonical Allele Identifier: CA2617685663

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2969858
• ClinVar RCV Id: RCV003821992
• gnomAD v4: 12-12718012-G-GC

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.174dup	ENSP00000507272.1:p.Lys59GlnfsTer?
ENST00000682620.1:n.1631-812dup
ENST00000684771.1:n.585-812dup
ENST00000228872.9:c.174dup MANE Select	ENSP00000228872.4:p.Lys59GlnfsTer?
ENST00000228872.8:c.174dup	ENSP00000228872.4:p.Lys59GlnfsTer?
ENST00000396340.1:c.174dup	ENSP00000379629.1:p.Lys59GlnfsTer?
ENST00000442489.1:c.153dup	ENSP00000407597.1:p.Lys52GlnfsTer?
ENST00000477087.1:n.155-812dup
NM_004064.4:c.174dup	NP_004055.1:p.Lys59GlnfsTer?
NM_004064.5:c.174dup MANE Select	NP_004055.1:p.Lys59GlnfsTer?