Canonical Allele Identifier: CA16613684

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 404266
• ClinVar RCV Id: RCV000464377
• dbSNP Id: rs1060500186
• MyVariant Identifiers: chr12:g.12870822_12870825del (hg19) ; chr12:g.12717888_12717891del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717888_12717891del , CM000674.2:g.12717888_12717891del	GRCh38
NC_000012.11:g.12870822_12870825del , CM000674.1:g.12870822_12870825del	GRCh37
NC_000012.10:g.12762089_12762092del	NCBI36
NG_016341.1:g.5521_5524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.49_52del	ENSP00000507272.1:p.Asp17ProfsTer24
ENST00000682620.1:n.1631-937_1631-934del
ENST00000684771.1:n.585-937_585-934del
ENST00000228872.9:c.49_52del MANE Select	ENSP00000228872.4:p.Asp17ProfsTer24
ENST00000228872.8:c.49_52del	ENSP00000228872.4:p.Asp17ProfsTer24
ENST00000396340.1:c.49_52del	ENSP00000379629.1:p.Asp17ProfsTer24
ENST00000442489.1:c.28_31del	ENSP00000407597.1:p.Asp10ProfsTer24
ENST00000477087.1:n.155-937_155-934del
NM_004064.4:c.49_52del	NP_004055.1:p.Asp17ProfsTer24
NM_004064.5:c.49_52del MANE Select	NP_004055.1:p.Asp17ProfsTer24