Canonical Allele Identifier: CA2580080351

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1749776
• ClinVar RCV Id: RCV002359884

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974770_21974775dup , CM000671.2:g.21974770_21974775dup	GRCh38
NC_000009.11:g.21974769_21974774dup , CM000671.1:g.21974769_21974774dup	GRCh37
NC_000009.10:g.21964769_21964774dup	NCBI36
NG_007485.1:g.24722_24727dup , LRG_11:g.24722_24727dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.58_63dup MANE Select	ENSP00000307101.5:p.Ala21_Arg22insAlaAla
ENST00000404796.3:c.348-54663_348-54658dup	ENSP00000385916.2:n.348-54663_348-54658dup
ENST00000579755.2:c.194-3562_194-3557dup MANE Plus Clinical	ENSP00000462950.1:n.194-3562_194-3557dup
ENST00000304494.9:c.58_63dup	ENSP00000307101.5:p.Ala21_Arg22insAlaAla
ENST00000361570.4:c.194-3562_194-3557dup	ENSP00000355153.4:n.194-3562_194-3557dup
ENST00000380151.3:c.58_63dup	ENSP00000369496.3:p.Ala21_Arg22insAlaAla
ENST00000404796.2:c.348-54663_348-54658dup	ENSP00000385916.2:n.348-54663_348-54658dup
ENST00000494262.5:c.-3-3562_-3-3557dup	ENSP00000464952.1:n.-3-3562_-3-3557dup
ENST00000498124.1:c.58_63dup	ENSP00000418915.1:p.Ala21_Arg22insAlaAla
ENST00000498628.6:c.-3-3562_-3-3557dup	ENSP00000467857.1:n.-3-3562_-3-3557dup
ENST00000530628.2:c.194-3562_194-3557dup	ENSP00000432664.2:n.194-3562_194-3557dup
ENST00000579122.1:c.58_63dup	ENSP00000464202.1:p.Ala21_Arg22insAlaAla
ENST00000579755.1:c.194-3562_194-3557dup	ENSP00000462950.1:n.194-3562_194-3557dup
NM_000077.4:c.58_63dup , LRG_11t1:c.58_63dup	NP_000068.1:p.Ala21_Arg22insAlaAla
NM_001195132.1:c.58_63dup	NP_001182061.1:p.Ala21_Arg22insAlaAla
NM_058195.3:c.194-3562_194-3557dup , LRG_11t2:c.194-3562_194-3557dup	NP_478102.2:n.194-3562_194-3557dup
NM_058197.4:c.58_63dup	NP_478104.2:p.Ala21_Arg22insAlaAla
XM_011517675.1:c.58_63dup	XP_011515977.1:p.Ala21_Arg22insAlaAla
XM_011517676.1:c.58_63dup	XP_011515978.1:p.Ala21_Arg22insAlaAla
XM_011517679.1:c.-3-3562_-3-3557dup	XP_011515981.1:n.-3-3562_-3-3557dup
XR_929159.1:n.459_464dup
XR_929161.1:n.341-3562_341-3557dup
XR_929162.1:n.341-3562_341-3557dup
XR_929163.1:n.290-3562_290-3557dup
NM_001363763.1:c.-3-3562_-3-3557dup	NP_001350692.1:n.-3-3562_-3-3557dup
XM_011517675.2:c.58_63dup	XP_011515977.1:p.Ala21_Arg22insAlaAla
XM_011517676.2:c.58_63dup	XP_011515978.1:p.Ala21_Arg22insAlaAla
XR_929159.2:n.388_393dup
NM_001363763.2:c.-3-3562_-3-3557dup	NP_001350692.1:n.-3-3562_-3-3557dup
NM_000077.5:c.58_63dup MANE Select	NP_000068.1:p.Ala21_Arg22insAlaAla
NM_001195132.2:c.58_63dup	NP_001182061.1:p.Ala21_Arg22insAlaAla
NM_058195.4:c.194-3562_194-3557dup MANE Plus Clinical	NP_478102.2:n.194-3562_194-3557dup
NM_058197.5:c.58_63dup	NP_478104.2:p.Ala21_Arg22insAlaAla