Canonical Allele Identifier: CA2580080352

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1782299
• ClinVar RCV Id: RCV002408254 ; RCV003746642

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974806_21974809dup , CM000671.2:g.21974806_21974809dup	GRCh38
NC_000009.11:g.21974805_21974808dup , CM000671.1:g.21974805_21974808dup	GRCh37
NC_000009.10:g.21964805_21964808dup	NCBI36
NG_007485.1:g.24683_24686dup , LRG_11:g.24683_24686dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.19_22dup MANE Select	ENSP00000307101.5:p.Ser8LysfsTer8
ENST00000404796.3:c.348-54627_348-54624dup	ENSP00000385916.2:n.348-54627_348-54624dup
ENST00000579755.2:c.194-3601_194-3598dup MANE Plus Clinical	ENSP00000462950.1:n.194-3601_194-3598dup
ENST00000304494.9:c.19_22dup	ENSP00000307101.5:p.Ser8LysfsTer8
ENST00000361570.4:c.194-3601_194-3598dup	ENSP00000355153.4:n.194-3601_194-3598dup
ENST00000380151.3:c.19_22dup	ENSP00000369496.3:p.Ser8LysfsTer8
ENST00000404796.2:c.348-54627_348-54624dup	ENSP00000385916.2:n.348-54627_348-54624dup
ENST00000494262.5:c.-3-3601_-3-3598dup	ENSP00000464952.1:n.-3-3601_-3-3598dup
ENST00000498124.1:c.19_22dup	ENSP00000418915.1:p.Ser8LysfsTer8
ENST00000498628.6:c.-3-3601_-3-3598dup	ENSP00000467857.1:n.-3-3601_-3-3598dup
ENST00000530628.2:c.194-3601_194-3598dup	ENSP00000432664.2:n.194-3601_194-3598dup
ENST00000579122.1:c.19_22dup	ENSP00000464202.1:p.Ser8LysfsTer8
ENST00000579755.1:c.194-3601_194-3598dup	ENSP00000462950.1:n.194-3601_194-3598dup
NM_000077.4:c.19_22dup , LRG_11t1:c.19_22dup	NP_000068.1:p.Ser8LysfsTer8
NM_001195132.1:c.19_22dup	NP_001182061.1:p.Ser8LysfsTer8
NM_058195.3:c.194-3601_194-3598dup , LRG_11t2:c.194-3601_194-3598dup	NP_478102.2:n.194-3601_194-3598dup
NM_058197.4:c.19_22dup	NP_478104.2:p.Ser8LysfsTer8
XM_011517675.1:c.19_22dup	XP_011515977.1:p.Ser8LysfsTer8
XM_011517676.1:c.19_22dup	XP_011515978.1:p.Ser8LysfsTer8
XM_011517679.1:c.-3-3601_-3-3598dup	XP_011515981.1:n.-3-3601_-3-3598dup
XR_929159.1:n.420_423dup
XR_929161.1:n.341-3601_341-3598dup
XR_929162.1:n.341-3601_341-3598dup
XR_929163.1:n.290-3601_290-3598dup
NM_001363763.1:c.-3-3601_-3-3598dup	NP_001350692.1:n.-3-3601_-3-3598dup
XM_011517675.2:c.19_22dup	XP_011515977.1:p.Ser8LysfsTer8
XM_011517676.2:c.19_22dup	XP_011515978.1:p.Ser8LysfsTer8
XR_929159.2:n.349_352dup
NM_001363763.2:c.-3-3601_-3-3598dup	NP_001350692.1:n.-3-3601_-3-3598dup
NM_000077.5:c.19_22dup MANE Select	NP_000068.1:p.Ser8LysfsTer8
NM_001195132.2:c.19_22dup	NP_001182061.1:p.Ser8LysfsTer8
NM_058195.4:c.194-3601_194-3598dup MANE Plus Clinical	NP_478102.2:n.194-3601_194-3598dup
NM_058197.5:c.19_22dup	NP_478104.2:p.Ser8LysfsTer8