Canonical Allele Identifier: CA645552484
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM13821

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971111_21971117del , CM000671.2:g.21971111_21971117del GRCh38
NC_000009.11:g.21971110_21971116del , CM000671.1:g.21971110_21971116del GRCh37
NC_000009.10:g.21961110_21961116del NCBI36
NG_007485.1:g.28376_28382del , LRG_11:g.28376_28382del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.243_249del MANE Select ENSP00000307101.5:p.Val82ThrfsTer?
ENST00000404796.3:c.348-58322_348-58316del ENSP00000385916.2:n.348-58322_348-58316del
ENST00000579755.2:c.286_292del MANE Plus Clinical ENSP00000462950.1:p.Arg96AspfsTer?
ENST00000304494.9:c.243_249del ENSP00000307101.5:p.Val82ThrfsTer?
ENST00000361570.4:c.286-1_291del
ENST00000380150.2:n.217_223del
ENST00000380151.3:c.517_523del ENSP00000369496.3:n.517_523del
ENST00000404796.2:c.348-58322_348-58316del ENSP00000385916.2:n.348-58322_348-58316del
ENST00000479692.2:c.90_96del ENSP00000466887.1:p.Val31ThrfsTer?
ENST00000494262.5:c.90_96del ENSP00000464952.1:p.Val31ThrfsTer?
ENST00000497750.1:c.90_96del ENSP00000468510.1:p.Val31ThrfsTer?
ENST00000498124.1:c.243_249del ENSP00000418915.1:p.Val82ThrfsTer?
ENST00000498628.6:c.90_96del ENSP00000467857.1:p.Val31ThrfsTer?
ENST00000530628.2:c.286_292del ENSP00000432664.2:p.Arg96AspfsTer?
ENST00000578845.2:c.90_96del ENSP00000467390.1:p.Val31ThrfsTer?
ENST00000579122.1:c.243_249del ENSP00000464202.1:p.Val82ThrfsTer?
ENST00000579755.1:c.286_292del ENSP00000462950.1:p.Arg96AspfsTer?
NM_000077.4:c.243_249del , LRG_11t1:c.243_249del NP_000068.1:p.Val82ThrfsTer?
NM_001195132.1:c.243_249del NP_001182061.1:p.Val82ThrfsTer?
NM_058195.3:c.286_292del , LRG_11t2:c.286_292del NP_478102.2:p.Arg96AspfsTer?
NM_058197.4:c.517_523del NP_478104.2:n.517_523del
XM_005251343.1:c.90_96del XP_005251400.1:p.Val31ThrfsTer?
XM_011517675.1:c.243_249del XP_011515977.1:p.Val82ThrfsTer?
XM_011517676.1:c.243_249del XP_011515978.1:p.Val82ThrfsTer?
XM_011517679.1:c.90_96del XP_011515981.1:p.Val31ThrfsTer?
XR_929159.1:n.644_650del
XR_929161.1:n.433_439del
XR_929162.1:n.433_439del
XR_929163.1:n.382_388del
XR_929164.1:n.165_171del
NM_001363763.1:c.90_96del NP_001350692.1:p.Val31ThrfsTer?
XM_011517675.2:c.243_249del XP_011515977.1:p.Val82ThrfsTer?
XM_011517676.2:c.243_249del XP_011515978.1:p.Val82ThrfsTer?
XR_929159.2:n.573_579del
NM_001363763.2:c.90_96del NP_001350692.1:p.Val31ThrfsTer?
NM_000077.5:c.243_249del MANE Select NP_000068.1:p.Val82ThrfsTer?
NM_001195132.2:c.243_249del NP_001182061.1:p.Val82ThrfsTer?
NM_058195.4:c.286_292del MANE Plus Clinical NP_478102.2:p.Arg96AspfsTer?
NM_058197.5:c.*166_*172del NP_478104.2:n.*166_*172del