Canonical Allele Identifier: CA6457460
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 823199
ClinVar RCV Id: RCV001019239 RCV001726415 RCV001809921
dbSNP Id: rs755301027
ExAC: 12:12871092 CA / C
gnomAD v2: 12-12871092-CA-C
gnomAD v4: 12-12718158-CA-C
MyVariant Identifiers: chr12:g.12871093del (hg19) chr12:g.12718159del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718159del , CM000674.2:g.12718159del GRCh38
NC_000012.11:g.12871093del , CM000674.1:g.12871093del GRCh37
NC_000012.10:g.12762360del NCBI36
NG_016341.1:g.5792del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.320del ENSP00000507272.1:p.Gln107ArgfsTer12
ENST00000682620.1:n.1631-666del
ENST00000684771.1:n.585-666del
ENST00000228872.9:c.320del MANE Select ENSP00000228872.4:p.Gln107ArgfsTer12
ENST00000228872.8:c.320del ENSP00000228872.4:p.Gln107ArgfsTer12
ENST00000396340.1:c.320del ENSP00000379629.1:p.Gln107ArgfsTer12
ENST00000442489.1:c.193+106del ENSP00000407597.1:n.193+106del
ENST00000477087.1:n.155-666del
NM_004064.4:c.320del NP_004055.1:p.Gln107ArgfsTer12
NM_004064.5:c.320del MANE Select NP_004055.1:p.Gln107ArgfsTer12
Search 100 bp 5'
Search 100 bp 3'