Canonical Allele Identifier: CA190743128

Gene: CDKN2A

Linked Data

• dbSNP Id: rs997337009
• gnomAD v3: 9-21986789-ATTCAAC-A
• gnomAD v4: 9-21986789-ATTCAAC-A
• MyVariant Identifiers: chr9:g.21986789_21986794del (hg19) ; chr9:g.21986790_21986795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21986797_21986802del , CM000671.2:g.21986797_21986802del	GRCh38
NC_000009.11:g.21986796_21986801del , CM000671.1:g.21986796_21986801del	GRCh37
NC_000009.10:g.21976796_21976801del	NCBI36
NG_007485.1:g.12697_12702del , LRG_11:g.12697_12702del

Transcript Alleles

HGVS	Amino-acid change
ENST00000404796.3:c.348-42636_348-42631del	ENSP00000385916.2:n.348-42636_348-42631de...
ENST00000579755.2:c.193+7344_193+7349del MANE Plus Clinical	ENSP00000462950.1:n.193+7344_193+7349del
ENST00000361570.4:c.193+7344_193+7349del	ENSP00000355153.4:n.193+7344_193+7349del
ENST00000404796.2:c.348-42636_348-42631del	ENSP00000385916.2:n.348-42636_348-42631de...
ENST00000494262.5:c.-4+7087_-4+7092del	ENSP00000464952.1:n.-4+7087_-4+7092del
ENST00000498628.6:c.-4+8026_-4+8031del	ENSP00000467857.1:n.-4+8026_-4+8031del
ENST00000530628.2:c.193+7344_193+7349del	ENSP00000432664.2:n.193+7344_193+7349del
ENST00000579755.1:c.193+7344_193+7349del	ENSP00000462950.1:n.193+7344_193+7349del
NM_058195.3:c.193+7344_193+7349del , LRG_11t2:c.193+7344_193+7349del	NP_478102.2:n.193+7344_193+7349del
XM_011517679.1:c.-4+8026_-4+8031del	XP_011515981.1:n.-4+8026_-4+8031del
XR_929161.1:n.340+7344_340+7349del
XR_929162.1:n.340+7344_340+7349del
XR_929163.1:n.289+7344_289+7349del
NM_001363763.1:c.-4+8026_-4+8031del	NP_001350692.1:n.-4+8026_-4+8031del
NM_001363763.2:c.-4+8026_-4+8031del	NP_001350692.1:n.-4+8026_-4+8031del
NM_058195.4:c.193+7344_193+7349del MANE Plus Clinical	NP_478102.2:n.193+7344_193+7349del