Canonical Allele Identifier: CA186348

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 183759
• ClinVar RCV Id: RCV000162477 ; RCV000232355 ; RCV000237004 ; RCV003474844
• dbSNP Id: rs768966657
• ExAC: 9:21971020 A / AGAC
• gnomAD v2: 9-21971020-A-AGAC
• gnomAD v4: 9-21971021-A-AGAC
• MyVariant Identifiers: chr9:g.21971021_21971023dupGAC (hg19) ; chr9:g.21971020_21971021insGAC (hg19) ; chr9:g.21971022_21971024dupGAC (hg38) ; chr9:g.21971021_21971022insGAC (hg38)
• PubMed: PMID:8653684 ; PMID:10498896 ; PMID:10922411 ; PMID:11156381 ; PMID:11319798 ; PMID:12072543 ; PMID:15146471 ; PMID:16905682 ; PMID:17047042 ; PMID:20526219 ; PMID:24935963 ; PMID:25803691 ; PMID:25813228

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971023_21971025dup , CM000671.2:g.21971023_21971025dup	GRCh38
NC_000009.11:g.21971022_21971024dup , CM000671.1:g.21971022_21971024dup	GRCh37
NC_000009.10:g.21961022_21961024dup	NCBI36
NG_007485.1:g.28468_28470dup , LRG_11:g.28468_28470dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.335_337dup MANE Select	ENSP00000307101.5:p.Arg112_Leu113insArg
ENST00000404796.3:c.348-58410_348-58408dup	ENSP00000385916.2:n.348-58410_348-58408du...
ENST00000579755.2:c.378_380dup MANE Plus Clinical	ENSP00000462950.1:p.Ser127_Ala128insSer
ENST00000304494.9:c.335_337dup	ENSP00000307101.5:p.Arg112_Leu113insArg
ENST00000361570.4:c.377_379dup	ENSP00000355153.4:p.Arg126_Leu127insArg
ENST00000380150.2:n.309_311dup
ENST00000380151.3:c.609_611dup	ENSP00000369496.3:n.609_611dup
ENST00000404796.2:c.348-58410_348-58408dup	ENSP00000385916.2:n.348-58410_348-58408du...
ENST00000479692.2:c.182_184dup	ENSP00000466887.1:p.Arg61_Leu62insArg
ENST00000494262.5:c.182_184dup	ENSP00000464952.1:p.Arg61_Leu62insArg
ENST00000497750.1:c.182_184dup	ENSP00000468510.1:p.Arg61_Leu62insArg
ENST00000498124.1:c.335_337dup	ENSP00000418915.1:p.Arg112_Leu113insArg
ENST00000498628.6:c.182_184dup	ENSP00000467857.1:p.Arg61_Leu62insArg
ENST00000530628.2:c.378_380dup	ENSP00000432664.2:p.Ser127_Ala128insSer
ENST00000578845.2:c.182_184dup	ENSP00000467390.1:p.Arg61_Leu62insArg
ENST00000579122.1:c.335_337dup	ENSP00000464202.1:p.Arg112_Leu113insArg
ENST00000579755.1:c.378_380dup	ENSP00000462950.1:p.Ser127_Ala128insSer
NM_000077.4:c.335_337dup , LRG_11t1:c.335_337dup	NP_000068.1:p.Arg112_Leu113insArg
NM_001195132.1:c.335_337dup	NP_001182061.1:p.Arg112_Leu113insArg
NM_058195.3:c.378_380dup , LRG_11t2:c.378_380dup	NP_478102.2:p.Ser127_Ala128insSer
NM_058197.4:c.609_611dup	NP_478104.2:n.609_611dup
XM_005251343.1:c.182_184dup	XP_005251400.1:p.Arg61_Leu62insArg
XM_011517675.1:c.335_337dup	XP_011515977.1:p.Arg112_Leu113insArg
XM_011517676.1:c.335_337dup	XP_011515978.1:p.Arg112_Leu113insArg
XM_011517679.1:c.182_184dup	XP_011515981.1:p.Arg61_Leu62insArg
XR_929159.1:n.736_738dup
XR_929161.1:n.525_527dup
XR_929162.1:n.525_527dup
XR_929163.1:n.474_476dup
XR_929164.1:n.257_259dup
NM_001363763.1:c.182_184dup	NP_001350692.1:p.Arg61_Leu62insArg
XM_011517675.2:c.335_337dup	XP_011515977.1:p.Arg112_Leu113insArg
XM_011517676.2:c.335_337dup	XP_011515978.1:p.Arg112_Leu113insArg
XR_929159.2:n.665_667dup
NM_001363763.2:c.182_184dup	NP_001350692.1:p.Arg61_Leu62insArg
NM_000077.5:c.335_337dup MANE Select	NP_000068.1:p.Arg112_Leu113insArg
NM_001195132.2:c.335_337dup	NP_001182061.1:p.Arg112_Leu113insArg
NM_058195.4:c.378_380dup MANE Plus Clinical	NP_478102.2:p.Ser127_Ala128insSer
NM_058197.5:c.*258_*260dup	NP_478104.2:n.*258_*260dup