Canonical Allele Identifier: CA862183306

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1486485976
• gnomAD v3: 9-21988482-TTAAA-T
• gnomAD v4: 9-21988482-TTAAA-T
• MyVariant Identifiers: chr9:g.21988482_21988485del (hg19) ; chr9:g.21988483_21988486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21988484_21988487del , CM000671.2:g.21988484_21988487del	GRCh38
NC_000009.11:g.21988483_21988486del , CM000671.1:g.21988483_21988486del	GRCh37
NC_000009.10:g.21978483_21978486del	NCBI36
NG_007485.1:g.11006_11009del , LRG_11:g.11006_11009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-40949_348-40946del	ENSP00000385916.2:n.348-40949_348-40946del
ENST00000579755.2:c.193+5653_193+5656del MANE Plus Clinical	ENSP00000462950.1:n.193+5653_193+5656del
ENST00000361570.4:c.193+5653_193+5656del	ENSP00000355153.4:n.193+5653_193+5656del
ENST00000404796.2:c.348-40949_348-40946del	ENSP00000385916.2:n.348-40949_348-40946del
ENST00000494262.5:c.-4+5396_-4+5399del	ENSP00000464952.1:n.-4+5396_-4+5399del
ENST00000498628.6:c.-4+6335_-4+6338del	ENSP00000467857.1:n.-4+6335_-4+6338del
ENST00000530628.2:c.193+5653_193+5656del	ENSP00000432664.2:n.193+5653_193+5656del
ENST00000579755.1:c.193+5653_193+5656del	ENSP00000462950.1:n.193+5653_193+5656del
NM_058195.3:c.193+5653_193+5656del , LRG_11t2:c.193+5653_193+5656del	NP_478102.2:n.193+5653_193+5656del
XM_011517678.1:c.*1444_*1447del	XP_011515980.1:n.*1444_*1447del
XM_011517679.1:c.-4+6335_-4+6338del	XP_011515981.1:n.-4+6335_-4+6338del
XR_929161.1:n.340+5653_340+5656del
XR_929162.1:n.340+5653_340+5656del
XR_929163.1:n.289+5653_289+5656del
NM_001363763.1:c.-4+6335_-4+6338del	NP_001350692.1:n.-4+6335_-4+6338del
NM_001363763.2:c.-4+6335_-4+6338del	NP_001350692.1:n.-4+6335_-4+6338del
NM_058195.4:c.193+5653_193+5656del MANE Plus Clinical	NP_478102.2:n.193+5653_193+5656del