Canonical Allele Identifier: CA464261842
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM33797
MyVariant Identifiers: chr9:g.21970988del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970989del , CM000671.2:g.21970989del GRCh38
NC_000009.11:g.21970988del , CM000671.1:g.21970988del GRCh37
NC_000009.10:g.21960988del NCBI36
NG_007485.1:g.28503del , LRG_11:g.28503del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.370del MANE Select ENSP00000307101.5:p.Arg124AlafsTer22
ENST00000404796.3:c.348-58444del ENSP00000385916.2:n.348-58444del
ENST00000579755.2:c.*14del MANE Plus Clinical ENSP00000462950.1:n.*14del
ENST00000304494.9:c.370del ENSP00000307101.5:p.Arg124AlafsTer22
ENST00000361570.4:c.412del ENSP00000355153.4:p.Arg138AlafsTer22
ENST00000380150.2:n.344del
ENST00000380151.3:c.644del ENSP00000369496.3:n.644del
ENST00000404796.2:c.348-58444del ENSP00000385916.2:n.348-58444del
ENST00000479692.2:c.217del ENSP00000466887.1:p.Arg73AlafsTer22
ENST00000494262.5:c.217del ENSP00000464952.1:p.Arg73AlafsTer22
ENST00000497750.1:c.217del ENSP00000468510.1:p.Arg73AlafsTer22
ENST00000498124.1:c.370del ENSP00000418915.1:p.Arg124AlafsTer22
ENST00000498628.6:c.217del ENSP00000467857.1:p.Arg73AlafsTer22
ENST00000530628.2:c.*14del ENSP00000432664.2:n.*14del
ENST00000578845.2:c.217del ENSP00000467390.1:p.Arg73AlafsTer22
ENST00000579122.1:c.370del ENSP00000464202.1:p.Arg124AlafsTer9
ENST00000579755.1:c.*14del ENSP00000462950.1:n.*14del
NM_000077.4:c.370del , LRG_11t1:c.370del NP_000068.1:p.Arg124AlafsTer22
NM_001195132.1:c.370del NP_001182061.1:p.Arg124AlafsTer22
NM_058195.3:c.*14del , LRG_11t2:c.*14del NP_478102.2:n.*14del
NM_058197.4:c.644del NP_478104.2:n.644del
XM_005251343.1:c.217del XP_005251400.1:p.Arg73AlafsTer22
XM_011517675.1:c.370del XP_011515977.1:p.Arg124AlafsTer22
XM_011517676.1:c.370del XP_011515978.1:p.Arg124AlafsTer22
XM_011517679.1:c.217del XP_011515981.1:p.Arg73AlafsTer22
XR_929159.1:n.771del
XR_929161.1:n.560del
XR_929162.1:n.560del
XR_929163.1:n.509del
XR_929164.1:n.292del
NM_001363763.1:c.217del NP_001350692.1:p.Arg73AlafsTer22
XM_011517675.2:c.370del XP_011515977.1:p.Arg124AlafsTer22
XM_011517676.2:c.370del XP_011515978.1:p.Arg124AlafsTer22
XR_929159.2:n.700del
NM_001363763.2:c.217del NP_001350692.1:p.Arg73AlafsTer22
NM_000077.5:c.370del MANE Select NP_000068.1:p.Arg124AlafsTer22
NM_001195132.2:c.370del NP_001182061.1:p.Arg124AlafsTer22
NM_058195.4:c.*14del MANE Plus Clinical NP_478102.2:n.*14del
NM_058197.5:c.*293del NP_478104.2:n.*293del