Canonical Allele Identifier: CA2697559109

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2700986
• ClinVar RCV Id: RCV003510530

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717882_12717883insCCTAGCCTGCAGC , CM000674.2:g.12717882_12717883insCCTAGCCTGCAGC	GRCh38
NC_000012.11:g.12870816_12870817insCCTAGCCTGCAGC , CM000674.1:g.12870816_12870817insCCTAGCCTGCAGC	GRCh37
NC_000012.10:g.12762083_12762084insCCTAGCCTGCAGC	NCBI36
NG_016341.1:g.5515_5516insCCTAGCCTGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.43_44insCCTAGCCTGCAGC	ENSP00000507272.1:p.Arg15ProfsTer2
ENST00000682620.1:n.1631-943_1631-942insCCTAGCCTGCAGC
ENST00000684771.1:n.585-943_585-942insCCTAGCCTGCAGC
ENST00000228872.9:c.43_44insCCTAGCCTGCAGC MANE Select	ENSP00000228872.4:p.Arg15ProfsTer2
ENST00000228872.8:c.43_44insCCTAGCCTGCAGC	ENSP00000228872.4:p.Arg15ProfsTer2
ENST00000396340.1:c.43_44insCCTAGCCTGCAGC	ENSP00000379629.1:p.Arg15ProfsTer2
ENST00000442489.1:c.22_23insCCTAGCCTGCAGC	ENSP00000407597.1:p.Arg8ProfsTer2
ENST00000477087.1:n.155-943_155-942insCCTAGCCTGCAGC
NM_004064.4:c.43_44insCCTAGCCTGCAGC	NP_004055.1:p.Arg15ProfsTer2
NM_004064.5:c.43_44insCCTAGCCTGCAGC MANE Select	NP_004055.1:p.Arg15ProfsTer2