Canonical Allele Identifier: CA2783180269
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21988655_21988657del , CM000671.2:g.21988655_21988657del GRCh38
NC_000009.11:g.21988654_21988656del , CM000671.1:g.21988654_21988656del GRCh37
NC_000009.10:g.21978654_21978656del NCBI36
NG_007485.1:g.10836_10838del , LRG_11:g.10836_10838del

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-40778_348-40776del ENSP00000385916.2:n.348-40778_348-40776del
ENST00000579755.2:c.193+5483_193+5485del MANE Plus Clinical ENSP00000462950.1:n.193+5483_193+5485del
ENST00000361570.4:c.193+5483_193+5485del ENSP00000355153.4:n.193+5483_193+5485del
ENST00000404796.2:c.348-40778_348-40776del ENSP00000385916.2:n.348-40778_348-40776del
ENST00000494262.5:c.-4+5226_-4+5228del ENSP00000464952.1:n.-4+5226_-4+5228del
ENST00000498628.6:c.-4+6165_-4+6167del ENSP00000467857.1:n.-4+6165_-4+6167del
ENST00000530628.2:c.193+5483_193+5485del ENSP00000432664.2:n.193+5483_193+5485del
ENST00000579755.1:c.193+5483_193+5485del ENSP00000462950.1:n.193+5483_193+5485del
NM_058195.3:c.193+5483_193+5485del , LRG_11t2:c.193+5483_193+5485del NP_478102.2:n.193+5483_193+5485del
XM_011517678.1:c.*1274_*1276del XP_011515980.1:n.*1274_*1276del
XM_011517679.1:c.-4+6165_-4+6167del XP_011515981.1:n.-4+6165_-4+6167del
XR_929161.1:n.340+5483_340+5485del
XR_929162.1:n.340+5483_340+5485del
XR_929163.1:n.289+5483_289+5485del
NM_001363763.1:c.-4+6165_-4+6167del NP_001350692.1:n.-4+6165_-4+6167del
NM_001363763.2:c.-4+6165_-4+6167del NP_001350692.1:n.-4+6165_-4+6167del
NM_058195.4:c.193+5483_193+5485del MANE Plus Clinical NP_478102.2:n.193+5483_193+5485del