Canonical Allele Identifier: CA2689599365

Gene: CDKN2A

Linked Data

• gnomAD v4: 9-21974951-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974956dup , CM000671.2:g.21974956dup	GRCh38
NC_000009.11:g.21974955dup , CM000671.1:g.21974955dup	GRCh37
NC_000009.10:g.21964955dup	NCBI36
NG_007485.1:g.24540dup , LRG_11:g.24540dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-54477dup	ENSP00000385916.2:n.348-54477dup
ENST00000579755.2:c.194-3744dup MANE Plus Clinical	ENSP00000462950.1:n.194-3744dup
ENST00000304494.9:c.-125dup	ENSP00000307101.5:n.-125dup
ENST00000361570.4:c.194-3744dup	ENSP00000355153.4:n.194-3744dup
ENST00000404796.2:c.348-54477dup	ENSP00000385916.2:n.348-54477dup
ENST00000494262.5:c.-3-3744dup	ENSP00000464952.1:n.-3-3744dup
ENST00000498628.6:c.-3-3744dup	ENSP00000467857.1:n.-3-3744dup
ENST00000530628.2:c.194-3744dup	ENSP00000432664.2:n.194-3744dup
ENST00000579755.1:c.194-3744dup	ENSP00000462950.1:n.194-3744dup
NM_000077.4:c.-125dup , LRG_11t1:c.-125dup	NP_000068.1:n.-125dup
NM_001195132.1:c.-125dup	NP_001182061.1:n.-125dup
NM_058195.3:c.194-3744dup , LRG_11t2:c.194-3744dup	NP_478102.2:n.194-3744dup
XM_011517675.1:c.-125dup	XP_011515977.1:n.-125dup
XM_011517676.1:c.-125dup	XP_011515978.1:n.-125dup
XM_011517679.1:c.-3-3744dup	XP_011515981.1:n.-3-3744dup
XR_929159.1:n.277dup
XR_929161.1:n.341-3744dup
XR_929162.1:n.341-3744dup
XR_929163.1:n.290-3744dup
NM_001363763.1:c.-3-3744dup	NP_001350692.1:n.-3-3744dup
XM_011517675.2:c.-125dup	XP_011515977.1:n.-125dup
XM_011517676.2:c.-125dup	XP_011515978.1:n.-125dup
XR_929159.2:n.206dup
NM_001363763.2:c.-3-3744dup	NP_001350692.1:n.-3-3744dup
NM_058195.4:c.194-3744dup MANE Plus Clinical	NP_478102.2:n.194-3744dup