Canonical Allele Identifier: CA645552425
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM13609

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970956_21970957del , CM000671.2:g.21970956_21970957del GRCh38
NC_000009.11:g.21970955_21970956del , CM000671.1:g.21970955_21970956del GRCh37
NC_000009.10:g.21960955_21960956del NCBI36
NG_007485.1:g.28539_28540del , LRG_11:g.28539_28540del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.406_407del MANE Select ENSP00000307101.5:p.Gly136HisfsTer5
ENST00000404796.3:c.348-58477_348-58476del ENSP00000385916.2:n.348-58477_348-58476de...
ENST00000579755.2:c.*50_*51del MANE Plus Clinical ENSP00000462950.1:n.*50_*51del
ENST00000304494.9:c.406_407del ENSP00000307101.5:p.Gly136HisfsTer5
ENST00000361570.4:c.448_449del ENSP00000355153.4:p.Gly150HisfsTer5
ENST00000380150.2:n.380_381del
ENST00000380151.3:c.680_681del ENSP00000369496.3:n.680_681del
ENST00000404796.2:c.348-58477_348-58476del ENSP00000385916.2:n.348-58477_348-58476de...
ENST00000479692.2:c.253_254del ENSP00000466887.1:p.Gly85HisfsTer5
ENST00000494262.5:c.253_254del ENSP00000464952.1:p.Gly85HisfsTer5
ENST00000497750.1:c.253_254del ENSP00000468510.1:p.Gly85HisfsTer5
ENST00000498124.1:c.406_407del ENSP00000418915.1:p.Gly136HisfsTer5
ENST00000498628.6:c.253_254del ENSP00000467857.1:p.Gly85HisfsTer5
ENST00000530628.2:c.*27+23_*27+24del ENSP00000432664.2:n.*27+23_*27+24del
ENST00000578845.2:c.253_254del ENSP00000467390.1:p.Gly85HisfsTer5
ENST00000579122.1:c.383+23_383+24del ENSP00000464202.1:n.383+23_383+24del
ENST00000579755.1:c.*50_*51del ENSP00000462950.1:n.*50_*51del
NM_000077.4:c.406_407del , LRG_11t1:c.406_407del NP_000068.1:p.Gly136HisfsTer5
NM_001195132.1:c.406_407del NP_001182061.1:p.Gly136HisfsTer5
NM_058195.3:c.*50_*51del , LRG_11t2:c.*50_*51del NP_478102.2:n.*50_*51del
NM_058197.4:c.680_681del NP_478104.2:n.680_681del
XM_005251343.1:c.253_254del XP_005251400.1:p.Gly85HisfsTer5
XM_011517675.1:c.406_407del XP_011515977.1:p.Gly136HisfsTer5
XM_011517676.1:c.406_407del XP_011515978.1:p.Gly136HisfsTer5
XM_011517679.1:c.253_254del XP_011515981.1:p.Gly85HisfsTer5
XR_929159.1:n.807_808del
XR_929161.1:n.596_597del
XR_929162.1:n.596_597del
XR_929163.1:n.545_546del
XR_929164.1:n.328_329del
NM_001363763.1:c.253_254del NP_001350692.1:p.Gly85HisfsTer5
XM_011517675.2:c.406_407del XP_011515977.1:p.Gly136HisfsTer5
XM_011517676.2:c.406_407del XP_011515978.1:p.Gly136HisfsTer5
XR_929159.2:n.736_737del
NM_001363763.2:c.253_254del NP_001350692.1:p.Gly85HisfsTer5
NM_000077.5:c.406_407del MANE Select NP_000068.1:p.Gly136HisfsTer5
NM_001195132.2:c.406_407del NP_001182061.1:p.Gly136HisfsTer5
NM_058195.4:c.*50_*51del MANE Plus Clinical NP_478102.2:n.*50_*51del
NM_058197.5:c.*329_*330del NP_478104.2:n.*329_*330del