Canonical Allele Identifier: CA1122164550

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1820354466
• gnomAD v3: 9-21988541-T-TA
• gnomAD v4: 9-21988541-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21988547dup , CM000671.2:g.21988547dup	GRCh38
NC_000009.11:g.21988546dup , CM000671.1:g.21988546dup	GRCh37
NC_000009.10:g.21978546dup	NCBI36
NG_007485.1:g.10950dup , LRG_11:g.10950dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-40886dup	ENSP00000385916.2:n.348-40886dup
ENST00000579755.2:c.193+5597dup MANE Plus Clinical	ENSP00000462950.1:n.193+5597dup
ENST00000361570.4:c.193+5597dup	ENSP00000355153.4:n.193+5597dup
ENST00000404796.2:c.348-40886dup	ENSP00000385916.2:n.348-40886dup
ENST00000494262.5:c.-4+5340dup	ENSP00000464952.1:n.-4+5340dup
ENST00000498628.6:c.-4+6279dup	ENSP00000467857.1:n.-4+6279dup
ENST00000530628.2:c.193+5597dup	ENSP00000432664.2:n.193+5597dup
ENST00000579755.1:c.193+5597dup	ENSP00000462950.1:n.193+5597dup
NM_058195.3:c.193+5597dup , LRG_11t2:c.193+5597dup	NP_478102.2:n.193+5597dup
XM_011517678.1:c.*1388dup	XP_011515980.1:n.*1388dup
XM_011517679.1:c.-4+6279dup	XP_011515981.1:n.-4+6279dup
XR_929161.1:n.340+5597dup
XR_929162.1:n.340+5597dup
XR_929163.1:n.289+5597dup
NM_001363763.1:c.-4+6279dup	NP_001350692.1:n.-4+6279dup
NM_001363763.2:c.-4+6279dup	NP_001350692.1:n.-4+6279dup
NM_058195.4:c.193+5597dup MANE Plus Clinical	NP_478102.2:n.193+5597dup