Canonical Allele Identifier: CA120386
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 9410
dbSNP Id: rs587776716

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971115_21971133del , CM000671.2:g.21971115_21971133del GRCh38
NC_000009.11:g.21971114_21971132del , CM000671.1:g.21971114_21971132del GRCh37
NC_000009.10:g.21961114_21961132del NCBI36
NG_007485.1:g.28359_28377del , LRG_11:g.28359_28377del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.226_244del MANE Select ENSP00000307101.5:p.Ala76CysfsTer?
ENST00000404796.3:c.348-58318_348-58300del ENSP00000385916.2:n.348-58318_348-58300de...
ENST00000579755.2:c.269_287del MANE Plus Clinical ENSP00000462950.1:p.Arg90LeufsTer?
ENST00000304494.9:c.226_244del ENSP00000307101.5:p.Ala76CysfsTer?
ENST00000361570.4:c.269_286del
ENST00000380150.2:n.200_218del
ENST00000380151.3:c.500_518del ENSP00000369496.3:n.500_518del
ENST00000404796.2:c.348-58318_348-58300del ENSP00000385916.2:n.348-58318_348-58300de...
ENST00000479692.2:c.73_91del ENSP00000466887.1:p.Ala25CysfsTer?
ENST00000494262.5:c.73_91del ENSP00000464952.1:p.Ala25CysfsTer?
ENST00000497750.1:c.73_91del ENSP00000468510.1:p.Ala25CysfsTer?
ENST00000498124.1:c.226_244del ENSP00000418915.1:p.Ala76CysfsTer?
ENST00000498628.6:c.73_91del ENSP00000467857.1:p.Ala25CysfsTer?
ENST00000530628.2:c.269_287del ENSP00000432664.2:p.Arg90LeufsTer?
ENST00000578845.2:c.73_91del ENSP00000467390.1:p.Ala25CysfsTer?
ENST00000579122.1:c.226_244del ENSP00000464202.1:p.Ala76CysfsTer?
ENST00000579755.1:c.269_287del ENSP00000462950.1:p.Arg90LeufsTer?
NM_000077.4:c.226_244del , LRG_11t1:c.226_244del NP_000068.1:p.Ala76CysfsTer?
NM_001195132.1:c.226_244del NP_001182061.1:p.Ala76CysfsTer?
NM_058195.3:c.269_287del , LRG_11t2:c.269_287del NP_478102.2:p.Arg90LeufsTer?
NM_058197.4:c.500_518del NP_478104.2:n.500_518del
XM_005251343.1:c.73_91del XP_005251400.1:p.Ala25CysfsTer?
XM_011517675.1:c.226_244del XP_011515977.1:p.Ala76CysfsTer?
XM_011517676.1:c.226_244del XP_011515978.1:p.Ala76CysfsTer?
XM_011517679.1:c.73_91del XP_011515981.1:p.Ala25CysfsTer?
XR_929159.1:n.627_645del
XR_929161.1:n.416_434del
XR_929162.1:n.416_434del
XR_929163.1:n.365_383del
XR_929164.1:n.148_166del
NM_001363763.1:c.73_91del NP_001350692.1:p.Ala25CysfsTer?
XM_011517675.2:c.226_244del XP_011515977.1:p.Ala76CysfsTer?
XM_011517676.2:c.226_244del XP_011515978.1:p.Ala76CysfsTer?
XR_929159.2:n.556_574del
NM_001363763.2:c.73_91del NP_001350692.1:p.Ala25CysfsTer?
NM_000077.5:c.226_244del MANE Select NP_000068.1:p.Ala76CysfsTer?
NM_001195132.2:c.226_244del NP_001182061.1:p.Ala76CysfsTer?
NM_058195.4:c.269_287del MANE Plus Clinical NP_478102.2:p.Arg90LeufsTer?
NM_058197.5:c.*149_*167del NP_478104.2:n.*149_*167del