Canonical Allele Identifier: CA2689598750
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970853_21970868del , CM000671.2:g.21970853_21970868del GRCh38
NC_000009.11:g.21970852_21970867del , CM000671.1:g.21970852_21970867del GRCh37
NC_000009.10:g.21960852_21960867del NCBI36
NG_007485.1:g.28629_28644del , LRG_11:g.28629_28644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.457+39_457+54del MANE Select ENSP00000307101.5:n.457+39_457+54del
ENST00000404796.3:c.348-58580_348-58565del ENSP00000385916.2:n.348-58580_348-58565del
ENST00000579755.2:c.*101+39_*101+54del MANE Plus Clinical ENSP00000462950.1:n.*101+39_*101+54del
ENST00000304494.9:c.457+39_457+54del ENSP00000307101.5:n.457+39_457+54del
ENST00000361570.4:c.499+39_499+54del ENSP00000355153.4:n.499+39_499+54del
ENST00000380150.2:n.431+39_431+54del
ENST00000380151.3:c.731+39_731+54del ENSP00000369496.3:n.731+39_731+54del
ENST00000404796.2:c.348-58580_348-58565del ENSP00000385916.2:n.348-58580_348-58565del
ENST00000479692.2:c.304+39_304+54del ENSP00000466887.1:n.304+39_304+54del
ENST00000494262.5:c.304+39_304+54del ENSP00000464952.1:n.304+39_304+54del
ENST00000497750.1:c.*28_*43del ENSP00000468510.1:n.*28_*43del
ENST00000498124.1:c.457+39_457+54del ENSP00000418915.1:n.457+39_457+54del
ENST00000498628.6:c.304+39_304+54del ENSP00000467857.1:n.304+39_304+54del
ENST00000530628.2:c.*27+113_*27+128del ENSP00000432664.2:n.*27+113_*27+128del
ENST00000578845.2:c.304+39_304+54del ENSP00000467390.1:n.304+39_304+54del
ENST00000579122.1:c.383+113_383+128del ENSP00000464202.1:n.383+113_383+128del
ENST00000579755.1:c.*101+39_*101+54del ENSP00000462950.1:n.*101+39_*101+54del
NM_000077.4:c.457+39_457+54del , LRG_11t1:c.457+39_457+54del NP_000068.1:n.457+39_457+54del
NM_001195132.1:c.457+39_457+54del NP_001182061.1:n.457+39_457+54del
NM_058195.3:c.*101+39_*101+54del , LRG_11t2:c.*101+39_*101+54del NP_478102.2:n.*101+39_*101+54del
NM_058197.4:c.731+39_731+54del NP_478104.2:n.731+39_731+54del
XM_005251343.1:c.304+39_304+54del XP_005251400.1:n.304+39_304+54del
XM_011517675.1:c.457+39_457+54del XP_011515977.1:n.457+39_457+54del
XM_011517676.1:c.457+39_457+54del XP_011515978.1:n.457+39_457+54del
XM_011517679.1:c.304+39_304+54del XP_011515981.1:n.304+39_304+54del
XR_929159.1:n.858+39_858+54del
XR_929161.1:n.647+39_647+54del
XR_929162.1:n.647+39_647+54del
XR_929163.1:n.596+39_596+54del
XR_929164.1:n.379+39_379+54del
NM_001363763.1:c.304+39_304+54del NP_001350692.1:n.304+39_304+54del
XM_011517675.2:c.457+39_457+54del XP_011515977.1:n.457+39_457+54del
XM_011517676.2:c.457+39_457+54del XP_011515978.1:n.457+39_457+54del
XR_929159.2:n.787+39_787+54del
NM_001363763.2:c.304+39_304+54del NP_001350692.1:n.304+39_304+54del
NM_000077.5:c.457+39_457+54del MANE Select NP_000068.1:n.457+39_457+54del
NM_001195132.2:c.457+39_457+54del NP_001182061.1:n.457+39_457+54del
NM_058195.4:c.*101+39_*101+54del MANE Plus Clinical NP_478102.2:n.*101+39_*101+54del
NM_058197.5:c.*380+39_*380+54del NP_478104.2:n.*380+39_*380+54del