Canonical Allele Identifier: CA645552521
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM85563

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971153_21971178del , CM000671.2:g.21971153_21971178del GRCh38
NC_000009.11:g.21971152_21971177del , CM000671.1:g.21971152_21971177del GRCh37
NC_000009.10:g.21961152_21961177del NCBI36
NG_007485.1:g.28315_28340del , LRG_11:g.28315_28340del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.182_207del MANE Select ENSP00000307101.5:p.Glu61AlafsTer?
ENST00000404796.3:c.348-58280_348-58255del ENSP00000385916.2:n.348-58280_348-58255del
ENST00000579755.2:c.225_250del MANE Plus Clinical ENSP00000462950.1:p.Ala76ProfsTer?
ENST00000304494.9:c.182_207del ENSP00000307101.5:p.Glu61AlafsTer?
ENST00000361570.4:c.225_250del ENSP00000355153.4:p.Ala76ProfsTer?
ENST00000380150.2:n.156_181del
ENST00000380151.3:c.456_481del ENSP00000369496.3:n.456_481del
ENST00000404796.2:c.348-58280_348-58255del ENSP00000385916.2:n.348-58280_348-58255del
ENST00000479692.2:c.29_54del ENSP00000466887.1:p.Glu10AlafsTer?
ENST00000494262.5:c.29_54del ENSP00000464952.1:p.Glu10AlafsTer?
ENST00000497750.1:c.29_54del ENSP00000468510.1:p.Glu10AlafsTer?
ENST00000498124.1:c.182_207del ENSP00000418915.1:p.Glu61AlafsTer?
ENST00000498628.6:c.29_54del ENSP00000467857.1:p.Glu10AlafsTer?
ENST00000530628.2:c.225_250del ENSP00000432664.2:p.Ala76ProfsTer?
ENST00000578845.2:c.29_54del ENSP00000467390.1:p.Glu10AlafsTer?
ENST00000579122.1:c.182_207del ENSP00000464202.1:p.Glu61AlafsTer?
ENST00000579755.1:c.225_250del ENSP00000462950.1:p.Ala76ProfsTer?
NM_000077.4:c.182_207del , LRG_11t1:c.182_207del NP_000068.1:p.Glu61AlafsTer?
NM_001195132.1:c.182_207del NP_001182061.1:p.Glu61AlafsTer?
NM_058195.3:c.225_250del , LRG_11t2:c.225_250del NP_478102.2:p.Ala76ProfsTer?
NM_058197.4:c.456_481del NP_478104.2:n.456_481del
XM_005251343.1:c.29_54del XP_005251400.1:p.Glu10AlafsTer?
XM_011517675.1:c.182_207del XP_011515977.1:p.Glu61AlafsTer?
XM_011517676.1:c.182_207del XP_011515978.1:p.Glu61AlafsTer?
XM_011517679.1:c.29_54del XP_011515981.1:p.Glu10AlafsTer?
XR_929159.1:n.583_608del
XR_929161.1:n.372_397del
XR_929162.1:n.372_397del
XR_929163.1:n.321_346del
XR_929164.1:n.104_129del
NM_001363763.1:c.29_54del NP_001350692.1:p.Glu10AlafsTer?
XM_011517675.2:c.182_207del XP_011515977.1:p.Glu61AlafsTer?
XM_011517676.2:c.182_207del XP_011515978.1:p.Glu61AlafsTer?
XR_929159.2:n.512_537del
NM_001363763.2:c.29_54del NP_001350692.1:p.Glu10AlafsTer?
NM_000077.5:c.182_207del MANE Select NP_000068.1:p.Glu61AlafsTer?
NM_001195132.2:c.182_207del NP_001182061.1:p.Glu61AlafsTer?
NM_058195.4:c.225_250del MANE Plus Clinical NP_478102.2:p.Ala76ProfsTer?
NM_058197.5:c.*105_*130del NP_478104.2:n.*105_*130del