Canonical Allele Identifier: CA2689598768
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970913del , CM000671.2:g.21970913del GRCh38
NC_000009.11:g.21970912del , CM000671.1:g.21970912del GRCh37
NC_000009.10:g.21960912del NCBI36
NG_007485.1:g.28580del , LRG_11:g.28580del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.447del MANE Select ENSP00000307101.5:p.Gly150ValfsTer?
ENST00000404796.3:c.348-58520del ENSP00000385916.2:n.348-58520del
ENST00000579755.2:c.*91del MANE Plus Clinical ENSP00000462950.1:n.*91del
ENST00000304494.9:c.447del ENSP00000307101.5:p.Gly150ValfsTer?
ENST00000361570.4:c.489del ENSP00000355153.4:p.Gly164ValfsTer?
ENST00000380150.2:n.421del
ENST00000380151.3:c.721del ENSP00000369496.3:n.721del
ENST00000404796.2:c.348-58520del ENSP00000385916.2:n.348-58520del
ENST00000479692.2:c.294del ENSP00000466887.1:p.Gly99ValfsTer?
ENST00000494262.5:c.294del ENSP00000464952.1:p.Gly99ValfsTer?
ENST00000497750.1:c.294del ENSP00000468510.1:p.Gly99ValfsTer?
ENST00000498124.1:c.447del ENSP00000418915.1:p.Gly150ValfsTer5
ENST00000498628.6:c.294del ENSP00000467857.1:p.Gly99ValfsTer?
ENST00000530628.2:c.*27+64del ENSP00000432664.2:n.*27+64del
ENST00000578845.2:c.294del ENSP00000467390.1:p.Gly99ValfsTer?
ENST00000579122.1:c.383+64del ENSP00000464202.1:n.383+64del
ENST00000579755.1:c.*91del ENSP00000462950.1:n.*91del
NM_000077.4:c.447del , LRG_11t1:c.447del NP_000068.1:p.Gly150ValfsTer?
NM_001195132.1:c.447del NP_001182061.1:p.Gly150ValfsTer5
NM_058195.3:c.*91del , LRG_11t2:c.*91del NP_478102.2:n.*91del
NM_058197.4:c.721del NP_478104.2:n.721del
XM_005251343.1:c.294del XP_005251400.1:p.Gly99ValfsTer?
XM_011517675.1:c.447del XP_011515977.1:p.Gly150ValfsTer?
XM_011517676.1:c.447del XP_011515978.1:p.Gly150ValfsTer?
XM_011517679.1:c.294del XP_011515981.1:p.Gly99ValfsTer?
XR_929159.1:n.848del
XR_929161.1:n.637del
XR_929162.1:n.637del
XR_929163.1:n.586del
XR_929164.1:n.369del
NM_001363763.1:c.294del NP_001350692.1:p.Gly99ValfsTer?
XM_011517675.2:c.447del XP_011515977.1:p.Gly150ValfsTer?
XM_011517676.2:c.447del XP_011515978.1:p.Gly150ValfsTer?
XR_929159.2:n.777del
NM_001363763.2:c.294del NP_001350692.1:p.Gly99ValfsTer?
NM_000077.5:c.447del MANE Select NP_000068.1:p.Gly150ValfsTer?
NM_001195132.2:c.447del NP_001182061.1:p.Gly150ValfsTer5
NM_058195.4:c.*91del MANE Plus Clinical NP_478102.2:n.*91del
NM_058197.5:c.*370del NP_478104.2:n.*370del