Canonical Allele Identifier: CA2580080292
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1742236
ClinVar RCV Id: RCV002330480

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968238del , CM000671.2:g.21968238del GRCh38
NC_000009.11:g.21968237del , CM000671.1:g.21968237del GRCh37
NC_000009.10:g.21958237del NCBI36
NG_007485.1:g.31257del , LRG_11:g.31257del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.465del MANE Select ENSP00000307101.5:p.Asp156IlefsTer?
ENST00000404796.3:c.348-61195del ENSP00000385916.2:n.348-61195del
ENST00000579755.2:c.*109del MANE Plus Clinical ENSP00000462950.1:n.*109del
ENST00000304494.9:c.465del ENSP00000307101.5:p.Asp156IlefsTer?
ENST00000361570.4:c.507del ENSP00000355153.4:p.Asp170IlefsTer?
ENST00000380151.3:c.739del ENSP00000369496.3:n.739del
ENST00000404796.2:c.348-61195del ENSP00000385916.2:n.348-61195del
ENST00000494262.5:c.312del ENSP00000464952.1:p.Asp105IlefsTer?
ENST00000498124.1:c.*158del ENSP00000418915.1:n.*158del
ENST00000498628.6:c.312del ENSP00000467857.1:p.Asp105IlefsTer?
ENST00000530628.2:c.*35del ENSP00000432664.2:n.*35del
ENST00000578845.2:c.312del ENSP00000467390.1:p.Asp105IlefsTer?
ENST00000579122.1:c.391del ENSP00000464202.1:p.Arg131AspfsTer2
ENST00000579755.1:c.*109del ENSP00000462950.1:n.*109del
NM_000077.4:c.465del , LRG_11t1:c.465del NP_000068.1:p.Asp156IlefsTer?
NM_001195132.1:c.*158del NP_001182061.1:n.*158del
NM_058195.3:c.*109del , LRG_11t2:c.*109del NP_478102.2:n.*109del
NM_058197.4:c.739del NP_478104.2:n.739del
XM_005251343.1:c.312del XP_005251400.1:p.Asp105IlefsTer?
XM_011517679.1:c.312del XP_011515981.1:p.Asp105IlefsTer?
NM_001363763.1:c.312del NP_001350692.1:p.Asp105IlefsTer?
NM_001363763.2:c.312del NP_001350692.1:p.Asp105IlefsTer?
NM_000077.5:c.465del MANE Select NP_000068.1:p.Asp156IlefsTer?
NM_001195132.2:c.*158del NP_001182061.1:n.*158del
NM_058195.4:c.*109del MANE Plus Clinical NP_478102.2:n.*109del
NM_058197.5:c.*388del NP_478104.2:n.*388del