Canonical Allele Identifier: CA2580085207
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2092093
ClinVar RCV Id: RCV003015939
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718235_12718236insTT , CM000674.2:g.12718235_12718236insTT GRCh38
NC_000012.11:g.12871169_12871170insTT , CM000674.1:g.12871169_12871170insTT GRCh37
NC_000012.10:g.12762436_12762437insTT NCBI36
NG_016341.1:g.5868_5869insTT

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.396_397insTT ENSP00000507272.1:p.Pro133PhefsTer13
ENST00000682620.1:n.1631-590_1631-589insTT
ENST00000684771.1:n.585-590_585-589insTT
ENST00000228872.9:c.396_397insTT MANE Select ENSP00000228872.4:p.Pro133PhefsTer13
ENST00000228872.8:c.396_397insTT ENSP00000228872.4:p.Pro133PhefsTer13
ENST00000396340.1:c.396_397insTT ENSP00000379629.1:p.Pro133PhefsTer13
ENST00000442489.1:c.193+182_193+183insTT ENSP00000407597.1:n.193+182_193+183insTT
ENST00000477087.1:n.155-590_155-589insTT
NM_004064.4:c.396_397insTT NP_004055.1:p.Pro133PhefsTer13
NM_004064.5:c.396_397insTT MANE Select NP_004055.1:p.Pro133PhefsTer13
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