Canonical Allele Identifier: CA1839178833
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs1820360528

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21988875_21988879del , CM000671.2:g.21988875_21988879del GRCh38
NC_000009.11:g.21988874_21988878del , CM000671.1:g.21988874_21988878del GRCh37
NC_000009.10:g.21978874_21978878del NCBI36
NG_007485.1:g.10613_10617del , LRG_11:g.10613_10617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-40558_348-40554del ENSP00000385916.2:n.348-40558_348-40554del
ENST00000579755.2:c.193+5260_193+5264del MANE Plus Clinical ENSP00000462950.1:n.193+5260_193+5264del
ENST00000361570.4:c.193+5260_193+5264del ENSP00000355153.4:n.193+5260_193+5264del
ENST00000404796.2:c.348-40558_348-40554del ENSP00000385916.2:n.348-40558_348-40554del
ENST00000494262.5:c.-4+5003_-4+5007del ENSP00000464952.1:n.-4+5003_-4+5007del
ENST00000498628.6:c.-4+5942_-4+5946del ENSP00000467857.1:n.-4+5942_-4+5946del
ENST00000530628.2:c.193+5260_193+5264del ENSP00000432664.2:n.193+5260_193+5264del
ENST00000579755.1:c.193+5260_193+5264del ENSP00000462950.1:n.193+5260_193+5264del
NM_058195.3:c.193+5260_193+5264del , LRG_11t2:c.193+5260_193+5264del NP_478102.2:n.193+5260_193+5264del
XM_011517678.1:c.*1051_*1055del XP_011515980.1:n.*1051_*1055del
XM_011517679.1:c.-4+5942_-4+5946del XP_011515981.1:n.-4+5942_-4+5946del
XR_929161.1:n.340+5260_340+5264del
XR_929162.1:n.340+5260_340+5264del
XR_929163.1:n.289+5260_289+5264del
NM_001363763.1:c.-4+5942_-4+5946del NP_001350692.1:n.-4+5942_-4+5946del
NM_001363763.2:c.-4+5942_-4+5946del NP_001350692.1:n.-4+5942_-4+5946del
NM_058195.4:c.193+5260_193+5264del MANE Plus Clinical NP_478102.2:n.193+5260_193+5264del