Canonical Allele Identifier: CA2739271872

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2846493
• ClinVar RCV Id: RCV003621226

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718177del , CM000674.2:g.12718177del	GRCh38
NC_000012.11:g.12871111del , CM000674.1:g.12871111del	GRCh37
NC_000012.10:g.12762378del	NCBI36
NG_016341.1:g.5810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.338del	ENSP00000507272.1:p.Arg113ProfsTer6
ENST00000682620.1:n.1631-648del
ENST00000684771.1:n.585-648del
ENST00000228872.9:c.338del MANE Select	ENSP00000228872.4:p.Arg113ProfsTer6
ENST00000228872.8:c.338del	ENSP00000228872.4:p.Arg113ProfsTer6
ENST00000396340.1:c.338del	ENSP00000379629.1:p.Arg113ProfsTer6
ENST00000442489.1:c.193+124del	ENSP00000407597.1:n.193+124del
ENST00000477087.1:n.155-648del
NM_004064.4:c.338del	NP_004055.1:p.Arg113ProfsTer6
NM_004064.5:c.338del MANE Select	NP_004055.1:p.Arg113ProfsTer6