Canonical Allele Identifier: CA645552458
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM33790

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971055_21971059del , CM000671.2:g.21971055_21971059del GRCh38
NC_000009.11:g.21971054_21971058del , CM000671.1:g.21971054_21971058del GRCh37
NC_000009.10:g.21961054_21961058del NCBI36
NG_007485.1:g.28435_28439del , LRG_11:g.28435_28439del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.302_306del MANE Select ENSP00000307101.5:p.Gly101AlafsTer17
ENST00000404796.3:c.348-58378_348-58374del ENSP00000385916.2:n.348-58378_348-58374del
ENST00000579755.2:c.345_349del MANE Plus Clinical ENSP00000462950.1:p.Ala117TrpfsTer?
ENST00000304494.9:c.302_306del ENSP00000307101.5:p.Gly101AlafsTer17
ENST00000361570.4:c.344_348del ENSP00000355153.4:p.Gly115AlafsTer17
ENST00000380150.2:n.276_280del
ENST00000380151.3:c.576_580del ENSP00000369496.3:n.576_580del
ENST00000404796.2:c.348-58378_348-58374del ENSP00000385916.2:n.348-58378_348-58374del
ENST00000479692.2:c.149_153del ENSP00000466887.1:p.Gly50AlafsTer17
ENST00000494262.5:c.149_153del ENSP00000464952.1:p.Gly50AlafsTer17
ENST00000497750.1:c.149_153del ENSP00000468510.1:p.Gly50AlafsTer17
ENST00000498124.1:c.302_306del ENSP00000418915.1:p.Gly101AlafsTer17
ENST00000498628.6:c.149_153del ENSP00000467857.1:p.Gly50AlafsTer17
ENST00000530628.2:c.345_349del ENSP00000432664.2:p.Ala117TrpfsTer?
ENST00000578845.2:c.149_153del ENSP00000467390.1:p.Gly50AlafsTer17
ENST00000579122.1:c.302_306del ENSP00000464202.1:p.Gly101AlafsTer17
ENST00000579755.1:c.345_349del ENSP00000462950.1:p.Ala117TrpfsTer?
NM_000077.4:c.302_306del , LRG_11t1:c.302_306del NP_000068.1:p.Gly101AlafsTer17
NM_001195132.1:c.302_306del NP_001182061.1:p.Gly101AlafsTer17
NM_058195.3:c.345_349del , LRG_11t2:c.345_349del NP_478102.2:p.Ala117TrpfsTer?
NM_058197.4:c.576_580del NP_478104.2:n.576_580del
XM_005251343.1:c.149_153del XP_005251400.1:p.Gly50AlafsTer17
XM_011517675.1:c.302_306del XP_011515977.1:p.Gly101AlafsTer17
XM_011517676.1:c.302_306del XP_011515978.1:p.Gly101AlafsTer17
XM_011517679.1:c.149_153del XP_011515981.1:p.Gly50AlafsTer17
XR_929159.1:n.703_707del
XR_929161.1:n.492_496del
XR_929162.1:n.492_496del
XR_929163.1:n.441_445del
XR_929164.1:n.224_228del
NM_001363763.1:c.149_153del NP_001350692.1:p.Gly50AlafsTer17
XM_011517675.2:c.302_306del XP_011515977.1:p.Gly101AlafsTer17
XM_011517676.2:c.302_306del XP_011515978.1:p.Gly101AlafsTer17
XR_929159.2:n.632_636del
NM_001363763.2:c.149_153del NP_001350692.1:p.Gly50AlafsTer17
NM_000077.5:c.302_306del MANE Select NP_000068.1:p.Gly101AlafsTer17
NM_001195132.2:c.302_306del NP_001182061.1:p.Gly101AlafsTer17
NM_058195.4:c.345_349del MANE Plus Clinical NP_478102.2:p.Ala117TrpfsTer?
NM_058197.5:c.*225_*229del NP_478104.2:n.*225_*229del