Canonical Allele Identifier: CA944840701

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2181832
• ClinVar RCV Id: RCV002606345
• dbSNP Id: rs781578554
• gnomAD v3: 12-12718324-C-CT
• gnomAD v4: 12-12718324-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718327dup , CM000674.2:g.12718327dup	GRCh38
NC_000012.11:g.12871261dup , CM000674.1:g.12871261dup	GRCh37
NC_000012.10:g.12762528dup	NCBI36
NG_016341.1:g.5960dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.475+13dup	ENSP00000507272.1:n.475+13dup
ENST00000682620.1:n.1631-498dup
ENST00000684771.1:n.585-498dup
ENST00000228872.9:c.475+13dup MANE Select	ENSP00000228872.4:n.475+13dup
ENST00000228872.8:c.475+13dup	ENSP00000228872.4:n.475+13dup
ENST00000396340.1:c.475+13dup	ENSP00000379629.1:n.475+13dup
ENST00000442489.1:c.193+274dup	ENSP00000407597.1:n.193+274dup
ENST00000477087.1:n.155-498dup
NM_004064.4:c.475+13dup	NP_004055.1:n.475+13dup
NM_004064.5:c.475+13dup MANE Select	NP_004055.1:n.475+13dup