Canonical Allele Identifier: CA2573147864

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1413501
• ClinVar RCV Id: RCV001945040 ; RCV003167163
• dbSNP Id: rs2136356377

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718227_12718231del , CM000674.2:g.12718227_12718231del	GRCh38
NC_000012.11:g.12871161_12871165del , CM000674.1:g.12871161_12871165del	GRCh37
NC_000012.10:g.12762428_12762432del	NCBI36
NG_016341.1:g.5860_5864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.388_392del	ENSP00000507272.1:p.Leu130GlyfsTer5
ENST00000682620.1:n.1631-598_1631-594del
ENST00000684771.1:n.585-598_585-594del
ENST00000228872.9:c.388_392del MANE Select	ENSP00000228872.4:p.Leu130GlyfsTer5
ENST00000228872.8:c.388_392del	ENSP00000228872.4:p.Leu130GlyfsTer5
ENST00000396340.1:c.388_392del	ENSP00000379629.1:p.Leu130GlyfsTer5
ENST00000442489.1:c.193+174_193+178del	ENSP00000407597.1:n.193+174_193+178del
ENST00000477087.1:n.155-598_155-594del
NM_004064.4:c.388_392del	NP_004055.1:p.Leu130GlyfsTer5
NM_004064.5:c.388_392del MANE Select	NP_004055.1:p.Leu130GlyfsTer5