Canonical Allele Identifier: CA645552447
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM13802

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971026_21971045del , CM000671.2:g.21971026_21971045del GRCh38
NC_000009.11:g.21971025_21971044del , CM000671.1:g.21971025_21971044del GRCh37
NC_000009.10:g.21961025_21961044del NCBI36
NG_007485.1:g.28447_28466del , LRG_11:g.28447_28466del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.314_333del MANE Select ENSP00000307101.5:p.Asp105AlafsTer8
ENST00000404796.3:c.348-58407_348-58388del ENSP00000385916.2:n.348-58407_348-58388de...
ENST00000579755.2:c.357_376del MANE Plus Clinical ENSP00000462950.1:p.Arg120ValfsTer?
ENST00000304494.9:c.314_333del ENSP00000307101.5:p.Asp105AlafsTer8
ENST00000361570.4:c.356_375del ENSP00000355153.4:p.Asp119AlafsTer8
ENST00000380150.2:n.288_307del
ENST00000380151.3:c.588_607del ENSP00000369496.3:n.588_607del
ENST00000404796.2:c.348-58407_348-58388del ENSP00000385916.2:n.348-58407_348-58388de...
ENST00000479692.2:c.161_180del ENSP00000466887.1:p.Asp54AlafsTer8
ENST00000494262.5:c.161_180del ENSP00000464952.1:p.Asp54AlafsTer8
ENST00000497750.1:c.161_180del ENSP00000468510.1:p.Asp54AlafsTer8
ENST00000498124.1:c.314_333del ENSP00000418915.1:p.Asp105AlafsTer8
ENST00000498628.6:c.161_180del ENSP00000467857.1:p.Asp54AlafsTer8
ENST00000530628.2:c.357_376del ENSP00000432664.2:p.Arg120ValfsTer21
ENST00000578845.2:c.161_180del ENSP00000467390.1:p.Asp54AlafsTer8
ENST00000579122.1:c.314_333del ENSP00000464202.1:p.Asp105AlafsTer8
ENST00000579755.1:c.357_376del ENSP00000462950.1:p.Arg120ValfsTer?
NM_000077.4:c.314_333del , LRG_11t1:c.314_333del NP_000068.1:p.Asp105AlafsTer8
NM_001195132.1:c.314_333del NP_001182061.1:p.Asp105AlafsTer8
NM_058195.3:c.357_376del , LRG_11t2:c.357_376del NP_478102.2:p.Arg120ValfsTer?
NM_058197.4:c.588_607del NP_478104.2:n.588_607del
XM_005251343.1:c.161_180del XP_005251400.1:p.Asp54AlafsTer8
XM_011517675.1:c.314_333del XP_011515977.1:p.Asp105AlafsTer8
XM_011517676.1:c.314_333del XP_011515978.1:p.Asp105AlafsTer8
XM_011517679.1:c.161_180del XP_011515981.1:p.Asp54AlafsTer8
XR_929159.1:n.715_734del
XR_929161.1:n.504_523del
XR_929162.1:n.504_523del
XR_929163.1:n.453_472del
XR_929164.1:n.236_255del
NM_001363763.1:c.161_180del NP_001350692.1:p.Asp54AlafsTer8
XM_011517675.2:c.314_333del XP_011515977.1:p.Asp105AlafsTer8
XM_011517676.2:c.314_333del XP_011515978.1:p.Asp105AlafsTer8
XR_929159.2:n.644_663del
NM_001363763.2:c.161_180del NP_001350692.1:p.Asp54AlafsTer8
NM_000077.5:c.314_333del MANE Select NP_000068.1:p.Asp105AlafsTer8
NM_001195132.2:c.314_333del NP_001182061.1:p.Asp105AlafsTer8
NM_058195.4:c.357_376del MANE Plus Clinical NP_478102.2:p.Arg120ValfsTer?
NM_058197.5:c.*237_*256del NP_478104.2:n.*237_*256del