Canonical Allele Identifier: CA2499221482

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1069331
• ClinVar RCV Id: RCV001381151
• dbSNP Id: rs2136355500

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717919_12717920del , CM000674.2:g.12717919_12717920del	GRCh38
NC_000012.11:g.12870853_12870854del , CM000674.1:g.12870853_12870854del	GRCh37
NC_000012.10:g.12762120_12762121del	NCBI36
NG_016341.1:g.5552_5553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.80_81del	ENSP00000507272.1:p.Ser27CysfsTer?
ENST00000682620.1:n.1631-906_1631-905del
ENST00000684771.1:n.585-906_585-905del
ENST00000228872.9:c.80_81del MANE Select	ENSP00000228872.4:p.Ser27CysfsTer?
ENST00000228872.8:c.80_81del	ENSP00000228872.4:p.Ser27CysfsTer?
ENST00000396340.1:c.80_81del	ENSP00000379629.1:p.Ser27CysfsTer?
ENST00000442489.1:c.59_60del	ENSP00000407597.1:p.Ser20CysfsTer?
ENST00000477087.1:n.155-906_155-905del
NM_004064.4:c.80_81del	NP_004055.1:p.Ser27CysfsTer?
NM_004064.5:c.80_81del MANE Select	NP_004055.1:p.Ser27CysfsTer?