Canonical Allele Identifier: CA10578836

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 233503
• ClinVar RCV Id: RCV000218034
• dbSNP Id: rs1554653976
• MyVariant Identifiers: chr9:g.21971015_21971018dupCGGG (hg19) ; chr9:g.21971016_21971019dupCGGG (hg38) ; chr9:g.21971015_21971016insCGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971017_21971020dup , CM000671.2:g.21971017_21971020dup	GRCh38
NC_000009.11:g.21971016_21971019dup , CM000671.1:g.21971016_21971019dup	GRCh37
NC_000009.10:g.21961016_21961019dup	NCBI36
NG_007485.1:g.28473_28476dup , LRG_11:g.28473_28476dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.340_343dup MANE Select	ENSP00000307101.5:p.Val115AlafsTer6
ENST00000404796.3:c.348-58416_348-58413dup	ENSP00000385916.2:n.348-58416_348-58413du...
ENST00000579755.2:c.383_386dup MANE Plus Clinical	ENSP00000462950.1:p.Gly130ProfsTer?
ENST00000304494.9:c.340_343dup	ENSP00000307101.5:p.Val115AlafsTer6
ENST00000361570.4:c.382_385dup	ENSP00000355153.4:p.Val129AlafsTer6
ENST00000380150.2:n.314_317dup
ENST00000380151.3:c.614_617dup	ENSP00000369496.3:n.614_617dup
ENST00000404796.2:c.348-58416_348-58413dup	ENSP00000385916.2:n.348-58416_348-58413du...
ENST00000479692.2:c.187_190dup	ENSP00000466887.1:p.Val64AlafsTer6
ENST00000494262.5:c.187_190dup	ENSP00000464952.1:p.Val64AlafsTer6
ENST00000497750.1:c.187_190dup	ENSP00000468510.1:p.Val64AlafsTer6
ENST00000498124.1:c.340_343dup	ENSP00000418915.1:p.Val115AlafsTer6
ENST00000498628.6:c.187_190dup	ENSP00000467857.1:p.Val64AlafsTer6
ENST00000530628.2:c.383_386dup	ENSP00000432664.2:p.Gly130ProfsTer19
ENST00000578845.2:c.187_190dup	ENSP00000467390.1:p.Val64AlafsTer6
ENST00000579122.1:c.340_343dup	ENSP00000464202.1:p.Val115AlafsTer6
ENST00000579755.1:c.383_386dup	ENSP00000462950.1:p.Gly130ProfsTer?
NM_000077.4:c.340_343dup , LRG_11t1:c.340_343dup	NP_000068.1:p.Val115AlafsTer6
NM_001195132.1:c.340_343dup	NP_001182061.1:p.Val115AlafsTer6
NM_058195.3:c.383_386dup , LRG_11t2:c.383_386dup	NP_478102.2:p.Gly130ProfsTer?
NM_058197.4:c.614_617dup	NP_478104.2:n.614_617dup
XM_005251343.1:c.187_190dup	XP_005251400.1:p.Val64AlafsTer6
XM_011517675.1:c.340_343dup	XP_011515977.1:p.Val115AlafsTer6
XM_011517676.1:c.340_343dup	XP_011515978.1:p.Val115AlafsTer6
XM_011517679.1:c.187_190dup	XP_011515981.1:p.Val64AlafsTer6
XR_929159.1:n.741_744dup
XR_929161.1:n.530_533dup
XR_929162.1:n.530_533dup
XR_929163.1:n.479_482dup
XR_929164.1:n.262_265dup
NM_001363763.1:c.187_190dup	NP_001350692.1:p.Val64AlafsTer6
XM_011517675.2:c.340_343dup	XP_011515977.1:p.Val115AlafsTer6
XM_011517676.2:c.340_343dup	XP_011515978.1:p.Val115AlafsTer6
XR_929159.2:n.670_673dup
NM_001363763.2:c.187_190dup	NP_001350692.1:p.Val64AlafsTer6
NM_000077.5:c.340_343dup MANE Select	NP_000068.1:p.Val115AlafsTer6
NM_001195132.2:c.340_343dup	NP_001182061.1:p.Val115AlafsTer6
NM_058195.4:c.383_386dup MANE Plus Clinical	NP_478102.2:p.Gly130ProfsTer?
NM_058197.5:c.*263_*266dup	NP_478104.2:n.*263_*266dup