Canonical Allele Identifier: CA915947917

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 689357
• ClinVar RCV Id: RCV001052382 ; RCV000850057
• dbSNP Id: rs1592280833

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717990_12717991del , CM000674.2:g.12717990_12717991del	GRCh38
NC_000012.11:g.12870924_12870925del , CM000674.1:g.12870924_12870925del	GRCh37
NC_000012.10:g.12762191_12762192del	NCBI36
NG_016341.1:g.5623_5624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.151_152del	ENSP00000507272.1:p.Asp51HisfsTer?
ENST00000682620.1:n.1631-835_1631-834del
ENST00000684771.1:n.585-835_585-834del
ENST00000228872.9:c.151_152del MANE Select	ENSP00000228872.4:p.Asp51HisfsTer?
ENST00000228872.8:c.151_152del	ENSP00000228872.4:p.Asp51HisfsTer?
ENST00000396340.1:c.151_152del	ENSP00000379629.1:p.Asp51HisfsTer?
ENST00000442489.1:c.130_131del	ENSP00000407597.1:p.Asp44HisfsTer?
ENST00000477087.1:n.155-835_155-834del
NM_004064.4:c.151_152del	NP_004055.1:p.Asp51HisfsTer?
NM_004064.5:c.151_152del MANE Select	NP_004055.1:p.Asp51HisfsTer?