Canonical Allele Identifier: CA2695199054

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2680535
• ClinVar RCV Id: RCV003475626

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718203_12718204delinsTT , CM000674.2:g.12718203_12718204delinsTT	GRCh38
NC_000012.11:g.12871137_12871138delinsTT , CM000674.1:g.12871137_12871138delinsTT	GRCh37
NC_000012.10:g.12762404_12762405delinsTT	NCBI36
NG_016341.1:g.5836_5837delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.364_365delinsTT	ENSP00000507272.1:p.Pro122Leu
ENST00000682620.1:n.1631-622_1631-621delinsTT
ENST00000684771.1:n.585-622_585-621delinsTT
ENST00000228872.9:c.364_365delinsTT MANE Select	ENSP00000228872.4:p.Pro122Leu
ENST00000228872.8:c.364_365delinsTT	ENSP00000228872.4:p.Pro122Leu
ENST00000396340.1:c.364_365delinsTT	ENSP00000379629.1:p.Pro122Leu
ENST00000442489.1:c.193+150_193+151delinsTT	ENSP00000407597.1:n.193+150_193+151delinsTT
ENST00000477087.1:n.155-622_155-621delinsTT
NM_004064.4:c.364_365delinsTT	NP_004055.1:p.Pro122Leu
NM_004064.5:c.364_365delinsTT MANE Select	NP_004055.1:p.Pro122Leu