Canonical Allele Identifier: CA603494650

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 850574
• ClinVar RCV Id: RCV001054769 ; RCV002327316
• dbSNP Id: rs1565419676
• gnomAD v2: 12-12871215-TGC-T
• gnomAD v4: 12-12718281-TGC-T
• MyVariant Identifiers: chr12:g.12871216_12871217del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718284_12718285del , CM000674.2:g.12718284_12718285del	GRCh38
NC_000012.11:g.12871218_12871219del , CM000674.1:g.12871218_12871219del	GRCh37
NC_000012.10:g.12762485_12762486del	NCBI36
NG_016341.1:g.5917_5918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.445_446del	ENSP00000507272.1:p.Ala149ArgfsTer?
ENST00000682620.1:n.1631-541_1631-540del
ENST00000684771.1:n.585-541_585-540del
ENST00000228872.9:c.445_446del MANE Select	ENSP00000228872.4:p.Ala149ArgfsTer?
ENST00000228872.8:c.445_446del	ENSP00000228872.4:p.Ala149ArgfsTer?
ENST00000396340.1:c.445_446del	ENSP00000379629.1:p.Ala149ArgfsTer15
ENST00000442489.1:c.193+231_193+232del	ENSP00000407597.1:n.193+231_193+232del
ENST00000477087.1:n.155-541_155-540del
NM_004064.4:c.445_446del	NP_004055.1:p.Ala149ArgfsTer?
NM_004064.5:c.445_446del MANE Select	NP_004055.1:p.Ala149ArgfsTer?