Canonical Allele Identifier: CA645552438
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM13721

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971010_21971113del , CM000671.2:g.21971010_21971113del GRCh38
NC_000009.11:g.21971009_21971112del , CM000671.1:g.21971009_21971112del GRCh37
NC_000009.10:g.21961009_21961112del NCBI36
NG_007485.1:g.28379_28482del , LRG_11:g.28379_28482del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.246_349del MANE Select ENSP00000307101.5:p.His83GlyfsTer2
ENST00000404796.3:c.348-58423_348-58320del ENSP00000385916.2:n.348-58423_348-58320de...
ENST00000579755.2:c.289_392del MANE Plus Clinical ENSP00000462950.1:p.Ala97TrpfsTer29
ENST00000304494.9:c.246_349del ENSP00000307101.5:p.His83GlyfsTer2
ENST00000361570.4:c.288_391del ENSP00000355153.4:p.His97GlyfsTer2
ENST00000380150.2:n.220_323del
ENST00000380151.3:c.520_623del ENSP00000369496.3:n.520_623del
ENST00000404796.2:c.348-58423_348-58320del ENSP00000385916.2:n.348-58423_348-58320de...
ENST00000479692.2:c.93_196del ENSP00000466887.1:p.His32GlyfsTer2
ENST00000494262.5:c.93_196del ENSP00000464952.1:p.His32GlyfsTer2
ENST00000497750.1:c.93_196del ENSP00000468510.1:p.His32GlyfsTer2
ENST00000498124.1:c.246_349del ENSP00000418915.1:p.His83GlyfsTer2
ENST00000498628.6:c.93_196del ENSP00000467857.1:p.His32GlyfsTer2
ENST00000530628.2:c.289_392del ENSP00000432664.2:p.Ala97TrpfsTer16
ENST00000578845.2:c.93_196del ENSP00000467390.1:p.His32GlyfsTer2
ENST00000579122.1:c.246_349del ENSP00000464202.1:p.His83GlyfsTer2
ENST00000579755.1:c.289_392del ENSP00000462950.1:p.Ala97TrpfsTer29
NM_000077.4:c.246_349del , LRG_11t1:c.246_349del NP_000068.1:p.His83GlyfsTer2
NM_001195132.1:c.246_349del NP_001182061.1:p.His83GlyfsTer2
NM_058195.3:c.289_392del , LRG_11t2:c.289_392del NP_478102.2:p.Ala97TrpfsTer29
NM_058197.4:c.520_623del NP_478104.2:n.520_623del
XM_005251343.1:c.93_196del XP_005251400.1:p.His32GlyfsTer2
XM_011517675.1:c.246_349del XP_011515977.1:p.His83GlyfsTer2
XM_011517676.1:c.246_349del XP_011515978.1:p.His83GlyfsTer2
XM_011517679.1:c.93_196del XP_011515981.1:p.His32GlyfsTer2
XR_929159.1:n.647_750del
XR_929161.1:n.436_539del
XR_929162.1:n.436_539del
XR_929163.1:n.385_488del
XR_929164.1:n.168_271del
NM_001363763.1:c.93_196del NP_001350692.1:p.His32GlyfsTer2
XM_011517675.2:c.246_349del XP_011515977.1:p.His83GlyfsTer2
XM_011517676.2:c.246_349del XP_011515978.1:p.His83GlyfsTer2
XR_929159.2:n.576_679del
NM_001363763.2:c.93_196del NP_001350692.1:p.His32GlyfsTer2
NM_000077.5:c.246_349del MANE Select NP_000068.1:p.His83GlyfsTer2
NM_001195132.2:c.246_349del NP_001182061.1:p.His83GlyfsTer2
NM_058195.4:c.289_392del MANE Plus Clinical NP_478102.2:p.Ala97TrpfsTer29
NM_058197.5:c.*169_*272del NP_478104.2:n.*169_*272del