Canonical Allele Identifier: CA645552628

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 579466
• ClinVar RCV Id: RCV000702757 ; RCV003165886 ; RCV003233827
• dbSNP Id: rs1563892769
• gnomAD v4: 9-21974770-C-CGGCCGT
• COSMIC: COSM13267 ; COSM13804
• MyVariant Identifiers: chr9:g.21974770_21974775dup (hg19) ; chr9:g.21974771_21974776dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974775_21974780dup , CM000671.2:g.21974775_21974780dup	GRCh38
NC_000009.11:g.21974774_21974779dup , CM000671.1:g.21974774_21974779dup	GRCh37
NC_000009.10:g.21964774_21964779dup	NCBI36
NG_007485.1:g.24716_24721dup , LRG_11:g.24716_24721dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.52_57dup MANE Select	ENSP00000307101.5:p.Ala19_Ala20insThrAla
ENST00000404796.3:c.348-54658_348-54653dup	ENSP00000385916.2:n.348-54658_348-54653dup
ENST00000579755.2:c.194-3568_194-3563dup MANE Plus Clinical	ENSP00000462950.1:n.194-3568_194-3563dup
ENST00000304494.9:c.52_57dup	ENSP00000307101.5:p.Ala19_Ala20insThrAla
ENST00000361570.4:c.194-3568_194-3563dup	ENSP00000355153.4:n.194-3568_194-3563dup
ENST00000380151.3:c.52_57dup	ENSP00000369496.3:p.Ala19_Ala20insThrAla
ENST00000404796.2:c.348-54658_348-54653dup	ENSP00000385916.2:n.348-54658_348-54653dup
ENST00000494262.5:c.-3-3568_-3-3563dup	ENSP00000464952.1:n.-3-3568_-3-3563dup
ENST00000498124.1:c.52_57dup	ENSP00000418915.1:p.Ala19_Ala20insThrAla
ENST00000498628.6:c.-3-3568_-3-3563dup	ENSP00000467857.1:n.-3-3568_-3-3563dup
ENST00000530628.2:c.194-3568_194-3563dup	ENSP00000432664.2:n.194-3568_194-3563dup
ENST00000579122.1:c.52_57dup	ENSP00000464202.1:p.Ala19_Ala20insThrAla
ENST00000579755.1:c.194-3568_194-3563dup	ENSP00000462950.1:n.194-3568_194-3563dup
NM_000077.4:c.52_57dup , LRG_11t1:c.52_57dup	NP_000068.1:p.Ala19_Ala20insThrAla
NM_001195132.1:c.52_57dup	NP_001182061.1:p.Ala19_Ala20insThrAla
NM_058195.3:c.194-3568_194-3563dup , LRG_11t2:c.194-3568_194-3563dup	NP_478102.2:n.194-3568_194-3563dup
NM_058197.4:c.52_57dup	NP_478104.2:p.Ala19_Ala20insThrAla
XM_011517675.1:c.52_57dup	XP_011515977.1:p.Ala19_Ala20insThrAla
XM_011517676.1:c.52_57dup	XP_011515978.1:p.Ala19_Ala20insThrAla
XM_011517679.1:c.-3-3568_-3-3563dup	XP_011515981.1:n.-3-3568_-3-3563dup
XR_929159.1:n.453_458dup
XR_929161.1:n.341-3568_341-3563dup
XR_929162.1:n.341-3568_341-3563dup
XR_929163.1:n.290-3568_290-3563dup
NM_001363763.1:c.-3-3568_-3-3563dup	NP_001350692.1:n.-3-3568_-3-3563dup
XM_011517675.2:c.52_57dup	XP_011515977.1:p.Ala19_Ala20insThrAla
XM_011517676.2:c.52_57dup	XP_011515978.1:p.Ala19_Ala20insThrAla
XR_929159.2:n.382_387dup
NM_001363763.2:c.-3-3568_-3-3563dup	NP_001350692.1:n.-3-3568_-3-3563dup
NM_000077.5:c.52_57dup MANE Select	NP_000068.1:p.Ala19_Ala20insThrAla
NM_001195132.2:c.52_57dup	NP_001182061.1:p.Ala19_Ala20insThrAla
NM_058195.4:c.194-3568_194-3563dup MANE Plus Clinical	NP_478102.2:n.194-3568_194-3563dup
NM_058197.5:c.52_57dup	NP_478104.2:p.Ala19_Ala20insThrAla