Canonical Allele Identifier: CA2739269177

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 2855411
• ClinVar RCV Id: RCV003746085

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971087_21971111del , CM000671.2:g.21971087_21971111del	GRCh38
NC_000009.11:g.21971086_21971110del , CM000671.1:g.21971086_21971110del	GRCh37
NC_000009.10:g.21961086_21961110del	NCBI36
NG_007485.1:g.28381_28405del , LRG_11:g.28381_28405del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.248_272del MANE Select	ENSP00000307101.5:p.His83ArgfsTer?
ENST00000404796.3:c.348-58346_348-58322del	ENSP00000385916.2:n.348-58346_348-58322de...
ENST00000579755.2:c.291_315del MANE Plus Clinical	ENSP00000462950.1:p.Arg98AspfsTer?
ENST00000304494.9:c.248_272del	ENSP00000307101.5:p.His83ArgfsTer?
ENST00000361570.4:c.290_314del	ENSP00000355153.4:p.His97ArgfsTer?
ENST00000380150.2:n.222_246del
ENST00000380151.3:c.522_546del	ENSP00000369496.3:n.522_546del
ENST00000404796.2:c.348-58346_348-58322del	ENSP00000385916.2:n.348-58346_348-58322de...
ENST00000479692.2:c.95_119del	ENSP00000466887.1:p.His32ArgfsTer?
ENST00000494262.5:c.95_119del	ENSP00000464952.1:p.His32ArgfsTer?
ENST00000497750.1:c.95_119del	ENSP00000468510.1:p.His32ArgfsTer?
ENST00000498124.1:c.248_272del	ENSP00000418915.1:p.His83ArgfsTer?
ENST00000498628.6:c.95_119del	ENSP00000467857.1:p.His32ArgfsTer?
ENST00000530628.2:c.291_315del	ENSP00000432664.2:p.Arg98AspfsTer?
ENST00000578845.2:c.95_119del	ENSP00000467390.1:p.His32ArgfsTer?
ENST00000579122.1:c.248_272del	ENSP00000464202.1:p.His83ArgfsTer?
ENST00000579755.1:c.291_315del	ENSP00000462950.1:p.Arg98AspfsTer?
NM_000077.4:c.248_272del , LRG_11t1:c.248_272del	NP_000068.1:p.His83ArgfsTer?
NM_001195132.1:c.248_272del	NP_001182061.1:p.His83ArgfsTer?
NM_058195.3:c.291_315del , LRG_11t2:c.291_315del	NP_478102.2:p.Arg98AspfsTer?
NM_058197.4:c.522_546del	NP_478104.2:n.522_546del
XM_005251343.1:c.95_119del	XP_005251400.1:p.His32ArgfsTer?
XM_011517675.1:c.248_272del	XP_011515977.1:p.His83ArgfsTer?
XM_011517676.1:c.248_272del	XP_011515978.1:p.His83ArgfsTer?
XM_011517679.1:c.95_119del	XP_011515981.1:p.His32ArgfsTer?
XR_929159.1:n.649_673del
XR_929161.1:n.438_462del
XR_929162.1:n.438_462del
XR_929163.1:n.387_411del
XR_929164.1:n.170_194del
NM_001363763.1:c.95_119del	NP_001350692.1:p.His32ArgfsTer?
XM_011517675.2:c.248_272del	XP_011515977.1:p.His83ArgfsTer?
XM_011517676.2:c.248_272del	XP_011515978.1:p.His83ArgfsTer?
XR_929159.2:n.578_602del
NM_001363763.2:c.95_119del	NP_001350692.1:p.His32ArgfsTer?
NM_000077.5:c.248_272del MANE Select	NP_000068.1:p.His83ArgfsTer?
NM_001195132.2:c.248_272del	NP_001182061.1:p.His83ArgfsTer?
NM_058195.4:c.291_315del MANE Plus Clinical	NP_478102.2:p.Arg98AspfsTer?
NM_058197.5:c.*171_*195del	NP_478104.2:n.*171_*195del