Canonical Allele Identifier: CA2580080353

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 2449773
• ClinVar RCV Id: RCV003171760

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974824_21974847dup , CM000671.2:g.21974824_21974847dup	GRCh38
NC_000009.11:g.21974823_21974846dup , CM000671.1:g.21974823_21974846dup	GRCh37
NC_000009.10:g.21964823_21964846dup	NCBI36
NG_007485.1:g.24648_24671dup , LRG_11:g.24648_24671dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.-17_7dup MANE Select	ENSP00000307101.5:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
ENST00000404796.3:c.348-54609_348-54586dup	ENSP00000385916.2:n.348-54609_348-54586dup
ENST00000579755.2:c.194-3636_194-3613dup MANE Plus Clinical	ENSP00000462950.1:n.194-3636_194-3613dup
ENST00000304494.9:c.-17_7dup	ENSP00000307101.5:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
ENST00000361570.4:c.194-3636_194-3613dup	ENSP00000355153.4:n.194-3636_194-3613dup
ENST00000404796.2:c.348-54609_348-54586dup	ENSP00000385916.2:n.348-54609_348-54586dup
ENST00000494262.5:c.-3-3636_-3-3613dup	ENSP00000464952.1:n.-3-3636_-3-3613dup
ENST00000498124.1:c.-17_7dup	ENSP00000418915.1:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
ENST00000498628.6:c.-3-3636_-3-3613dup	ENSP00000467857.1:n.-3-3636_-3-3613dup
ENST00000530628.2:c.194-3636_194-3613dup	ENSP00000432664.2:n.194-3636_194-3613dup
ENST00000579122.1:c.-17_7dup	ENSP00000464202.1:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
ENST00000579755.1:c.194-3636_194-3613dup	ENSP00000462950.1:n.194-3636_194-3613dup
NM_000077.4:c.-17_7dup , LRG_11t1:c.-17_7dup	NP_000068.1:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
NM_001195132.1:c.-17_7dup	NP_001182061.1:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
NM_058195.3:c.194-3636_194-3613dup , LRG_11t2:c.194-3636_194-3613dup	NP_478102.2:n.194-3636_194-3613dup
XM_011517675.1:c.-17_7dup	XP_011515977.1:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
XM_011517676.1:c.-17_7dup	XP_011515978.1:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
XM_011517679.1:c.-3-3636_-3-3613dup	XP_011515981.1:n.-3-3636_-3-3613dup
XR_929159.1:n.385_408dup
XR_929161.1:n.341-3636_341-3613dup
XR_929162.1:n.341-3636_341-3613dup
XR_929163.1:n.290-3636_290-3613dup
NM_001363763.1:c.-3-3636_-3-3613dup	NP_001350692.1:n.-3-3636_-3-3613dup
XM_011517675.2:c.-17_7dup	XP_011515977.1:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
XM_011517676.2:c.-17_7dup	XP_011515978.1:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
XR_929159.2:n.314_337dup
NM_001363763.2:c.-3-3636_-3-3613dup	NP_001350692.1:n.-3-3636_-3-3613dup
NM_000077.5:c.-17_7dup MANE Select	NP_000068.1:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
NM_001195132.2:c.-17_7dup	NP_001182061.1:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu
NM_058195.4:c.194-3636_194-3613dup MANE Plus Clinical	NP_478102.2:n.194-3636_194-3613dup
NM_058197.5:c.-17_7dup	NP_478104.2:p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu