Canonical Allele Identifier: CA2580080318

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 2000623
• ClinVar RCV Id: RCV002824664

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971069_21971073del , CM000671.2:g.21971069_21971073del	GRCh38
NC_000009.11:g.21971068_21971072del , CM000671.1:g.21971068_21971072del	GRCh37
NC_000009.10:g.21961068_21961072del	NCBI36
NG_007485.1:g.28420_28424del , LRG_11:g.28420_28424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.287_291del MANE Select	ENSP00000307101.5:p.Val96AlafsTer22
ENST00000404796.3:c.348-58364_348-58360del	ENSP00000385916.2:n.348-58364_348-58360del
ENST00000579755.2:c.330_334del MANE Plus Clinical	ENSP00000462950.1:p.Ala111ThrfsTer?
ENST00000304494.9:c.287_291del	ENSP00000307101.5:p.Val96AlafsTer22
ENST00000361570.4:c.329_333del	ENSP00000355153.4:p.Val110AlafsTer22
ENST00000380150.2:n.261_265del
ENST00000380151.3:c.561_565del	ENSP00000369496.3:n.561_565del
ENST00000404796.2:c.348-58364_348-58360del	ENSP00000385916.2:n.348-58364_348-58360del
ENST00000479692.2:c.134_138del	ENSP00000466887.1:p.Val45AlafsTer22
ENST00000494262.5:c.134_138del	ENSP00000464952.1:p.Val45AlafsTer22
ENST00000497750.1:c.134_138del	ENSP00000468510.1:p.Val45AlafsTer22
ENST00000498124.1:c.287_291del	ENSP00000418915.1:p.Val96AlafsTer22
ENST00000498628.6:c.134_138del	ENSP00000467857.1:p.Val45AlafsTer22
ENST00000530628.2:c.330_334del	ENSP00000432664.2:p.Ala111ThrfsTer?
ENST00000578845.2:c.134_138del	ENSP00000467390.1:p.Val45AlafsTer22
ENST00000579122.1:c.287_291del	ENSP00000464202.1:p.Val96AlafsTer22
ENST00000579755.1:c.330_334del	ENSP00000462950.1:p.Ala111ThrfsTer?
NM_000077.4:c.287_291del , LRG_11t1:c.287_291del	NP_000068.1:p.Val96AlafsTer22
NM_001195132.1:c.287_291del	NP_001182061.1:p.Val96AlafsTer22
NM_058195.3:c.330_334del , LRG_11t2:c.330_334del	NP_478102.2:p.Ala111ThrfsTer?
NM_058197.4:c.561_565del	NP_478104.2:n.561_565del
XM_005251343.1:c.134_138del	XP_005251400.1:p.Val45AlafsTer22
XM_011517675.1:c.287_291del	XP_011515977.1:p.Val96AlafsTer22
XM_011517676.1:c.287_291del	XP_011515978.1:p.Val96AlafsTer22
XM_011517679.1:c.134_138del	XP_011515981.1:p.Val45AlafsTer22
XR_929159.1:n.688_692del
XR_929161.1:n.477_481del
XR_929162.1:n.477_481del
XR_929163.1:n.426_430del
XR_929164.1:n.209_213del
NM_001363763.1:c.134_138del	NP_001350692.1:p.Val45AlafsTer22
XM_011517675.2:c.287_291del	XP_011515977.1:p.Val96AlafsTer22
XM_011517676.2:c.287_291del	XP_011515978.1:p.Val96AlafsTer22
XR_929159.2:n.617_621del
NM_001363763.2:c.134_138del	NP_001350692.1:p.Val45AlafsTer22
NM_000077.5:c.287_291del MANE Select	NP_000068.1:p.Val96AlafsTer22
NM_001195132.2:c.287_291del	NP_001182061.1:p.Val96AlafsTer22
NM_058195.4:c.330_334del MANE Plus Clinical	NP_478102.2:p.Ala111ThrfsTer?
NM_058197.5:c.*210_*214del	NP_478104.2:n.*210_*214del