Canonical Allele Identifier: CA645552441
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM28570

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971016_21971161del , CM000671.2:g.21971016_21971161del GRCh38
NC_000009.11:g.21971015_21971160del , CM000671.1:g.21971015_21971160del GRCh37
NC_000009.10:g.21961015_21961160del NCBI36
NG_007485.1:g.28331_28476del , LRG_11:g.28331_28476del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.198_343del MANE Select ENSP00000307101.5:p.Ala68ProfsTer3
ENST00000404796.3:c.348-58417_348-58272del ENSP00000385916.2:n.348-58417_348-58272de...
ENST00000579755.2:c.241_386del MANE Plus Clinical ENSP00000462950.1:p.Arg81TrpfsTer?
ENST00000304494.9:c.198_343del ENSP00000307101.5:p.Ala68ProfsTer3
ENST00000361570.4:c.241_385del
ENST00000380150.2:n.172_317del
ENST00000380151.3:c.472_617del ENSP00000369496.3:n.472_617del
ENST00000404796.2:c.348-58417_348-58272del ENSP00000385916.2:n.348-58417_348-58272de...
ENST00000479692.2:c.45_190del ENSP00000466887.1:p.Ala17ProfsTer3
ENST00000494262.5:c.45_190del ENSP00000464952.1:p.Ala17ProfsTer3
ENST00000497750.1:c.45_190del ENSP00000468510.1:p.Ala17ProfsTer3
ENST00000498124.1:c.198_343del ENSP00000418915.1:p.Ala68ProfsTer3
ENST00000498628.6:c.45_190del ENSP00000467857.1:p.Ala17ProfsTer3
ENST00000530628.2:c.241_386del ENSP00000432664.2:p.Arg81TrpfsTer18
ENST00000578845.2:c.45_190del ENSP00000467390.1:p.Ala17ProfsTer3
ENST00000579122.1:c.198_343del ENSP00000464202.1:p.Ala68ProfsTer3
ENST00000579755.1:c.241_386del ENSP00000462950.1:p.Arg81TrpfsTer?
NM_000077.4:c.198_343del , LRG_11t1:c.198_343del NP_000068.1:p.Ala68ProfsTer3
NM_001195132.1:c.198_343del NP_001182061.1:p.Ala68ProfsTer3
NM_058195.3:c.241_386del , LRG_11t2:c.241_386del NP_478102.2:p.Arg81TrpfsTer?
NM_058197.4:c.472_617del NP_478104.2:n.472_617del
XM_005251343.1:c.45_190del XP_005251400.1:p.Ala17ProfsTer3
XM_011517675.1:c.198_343del XP_011515977.1:p.Ala68ProfsTer3
XM_011517676.1:c.198_343del XP_011515978.1:p.Ala68ProfsTer3
XM_011517679.1:c.45_190del XP_011515981.1:p.Ala17ProfsTer3
XR_929159.1:n.599_744del
XR_929161.1:n.388_533del
XR_929162.1:n.388_533del
XR_929163.1:n.337_482del
XR_929164.1:n.120_265del
NM_001363763.1:c.45_190del NP_001350692.1:p.Ala17ProfsTer3
XM_011517675.2:c.198_343del XP_011515977.1:p.Ala68ProfsTer3
XM_011517676.2:c.198_343del XP_011515978.1:p.Ala68ProfsTer3
XR_929159.2:n.528_673del
NM_001363763.2:c.45_190del NP_001350692.1:p.Ala17ProfsTer3
NM_000077.5:c.198_343del MANE Select NP_000068.1:p.Ala68ProfsTer3
NM_001195132.2:c.198_343del NP_001182061.1:p.Ala68ProfsTer3
NM_058195.4:c.241_386del MANE Plus Clinical NP_478102.2:p.Arg81TrpfsTer?
NM_058197.5:c.*121_*266del NP_478104.2:n.*121_*266del