Canonical Allele Identifier: CA2499221487

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1072624
• ClinVar RCV Id: RCV001385387
• dbSNP Id: rs2136356368

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718224dup , CM000674.2:g.12718224dup	GRCh38
NC_000012.11:g.12871158dup , CM000674.1:g.12871158dup	GRCh37
NC_000012.10:g.12762425dup	NCBI36
NG_016341.1:g.5857dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.385dup	ENSP00000507272.1:p.His129ProfsTer8
ENST00000682620.1:n.1631-601dup
ENST00000684771.1:n.585-601dup
ENST00000228872.9:c.385dup MANE Select	ENSP00000228872.4:p.His129ProfsTer8
ENST00000228872.8:c.385dup	ENSP00000228872.4:p.His129ProfsTer8
ENST00000396340.1:c.385dup	ENSP00000379629.1:p.His129ProfsTer8
ENST00000442489.1:c.193+171dup	ENSP00000407597.1:n.193+171dup
ENST00000477087.1:n.155-601dup
NM_004064.4:c.385dup	NP_004055.1:p.His129ProfsTer8
NM_004064.5:c.385dup MANE Select	NP_004055.1:p.His129ProfsTer8