Canonical Allele Identifier: CA2697559112
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2749179
ClinVar RCV Id: RCV003509410
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718151_12718152del , CM000674.2:g.12718151_12718152del GRCh38
NC_000012.11:g.12871085_12871086del , CM000674.1:g.12871085_12871086del GRCh37
NC_000012.10:g.12762352_12762353del NCBI36
NG_016341.1:g.5784_5785del

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.312_313del ENSP00000507272.1:p.Ser106ProfsTer18
ENST00000682620.1:n.1631-674_1631-673del
ENST00000684771.1:n.585-674_585-673del
ENST00000228872.9:c.312_313del MANE Select ENSP00000228872.4:p.Ser106ProfsTer18
ENST00000228872.8:c.312_313del ENSP00000228872.4:p.Ser106ProfsTer18
ENST00000396340.1:c.312_313del ENSP00000379629.1:p.Ser106ProfsTer18
ENST00000442489.1:c.193+98_193+99del ENSP00000407597.1:n.193+98_193+99del
ENST00000477087.1:n.155-674_155-673del
NM_004064.4:c.312_313del NP_004055.1:p.Ser106ProfsTer18
NM_004064.5:c.312_313del MANE Select NP_004055.1:p.Ser106ProfsTer18
Search 100 bp 5'
Search 100 bp 3'