Canonical Allele Identifier: CA2580085212
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1741197
ClinVar RCV Id: RCV002339986

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718290dup , CM000674.2:g.12718290dup GRCh38
NC_000012.11:g.12871224dup , CM000674.1:g.12871224dup GRCh37
NC_000012.10:g.12762491dup NCBI36
NG_016341.1:g.5923dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.451dup ENSP00000507272.1:p.Ile151AsnfsTer?
ENST00000682620.1:n.1631-535dup
ENST00000684771.1:n.585-535dup
ENST00000228872.9:c.451dup MANE Select ENSP00000228872.4:p.Ile151AsnfsTer?
ENST00000228872.8:c.451dup ENSP00000228872.4:p.Ile151AsnfsTer?
ENST00000396340.1:c.451dup ENSP00000379629.1:p.Ile151AsnfsTer14
ENST00000442489.1:c.193+237dup ENSP00000407597.1:n.193+237dup
ENST00000477087.1:n.155-535dup
NM_004064.4:c.451dup NP_004055.1:p.Ile151AsnfsTer?
NM_004064.5:c.451dup MANE Select NP_004055.1:p.Ile151AsnfsTer?