Canonical Allele Identifier: CA2580085177
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1785213
ClinVar RCV Id: RCV002421962

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718045_12718047dup , CM000674.2:g.12718045_12718047dup GRCh38
NC_000012.11:g.12870979_12870981dup , CM000674.1:g.12870979_12870981dup GRCh37
NC_000012.10:g.12762246_12762248dup NCBI36
NG_016341.1:g.5678_5680dup

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.206_208dup ENSP00000507272.1:p.Pro69_Leu70insPro
ENST00000682620.1:n.1631-780_1631-778dup
ENST00000684771.1:n.585-780_585-778dup
ENST00000228872.9:c.206_208dup MANE Select ENSP00000228872.4:p.Pro69_Leu70insPro
ENST00000228872.8:c.206_208dup ENSP00000228872.4:p.Pro69_Leu70insPro
ENST00000396340.1:c.206_208dup ENSP00000379629.1:p.Pro69_Leu70insPro
ENST00000442489.1:c.185_187dup ENSP00000407597.1:p.Pro62_Leu63insPro
ENST00000477087.1:n.155-780_155-778dup
NM_004064.4:c.206_208dup NP_004055.1:p.Pro69_Leu70insPro
NM_004064.5:c.206_208dup MANE Select NP_004055.1:p.Pro69_Leu70insPro