Canonical Allele Identifier: CA862183457

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1207835478
• gnomAD v3: 9-21988774-C-CGA
• gnomAD v4: 9-21988774-C-CGA
• MyVariant Identifiers: chr9:g.21988773_21988774insGA (hg19) ; chr9:g.21988774_21988775insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21988776_21988777dup , CM000671.2:g.21988776_21988777dup	GRCh38
NC_000009.11:g.21988775_21988776dup , CM000671.1:g.21988775_21988776dup	GRCh37
NC_000009.10:g.21978775_21978776dup	NCBI36
NG_007485.1:g.10716_10717dup , LRG_11:g.10716_10717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-40657_348-40656dup	ENSP00000385916.2:n.348-40657_348-40656dup
ENST00000579755.2:c.193+5363_193+5364dup MANE Plus Clinical	ENSP00000462950.1:n.193+5363_193+5364dup
ENST00000361570.4:c.193+5363_193+5364dup	ENSP00000355153.4:n.193+5363_193+5364dup
ENST00000404796.2:c.348-40657_348-40656dup	ENSP00000385916.2:n.348-40657_348-40656dup
ENST00000494262.5:c.-4+5106_-4+5107dup	ENSP00000464952.1:n.-4+5106_-4+5107dup
ENST00000498628.6:c.-4+6045_-4+6046dup	ENSP00000467857.1:n.-4+6045_-4+6046dup
ENST00000530628.2:c.193+5363_193+5364dup	ENSP00000432664.2:n.193+5363_193+5364dup
ENST00000579755.1:c.193+5363_193+5364dup	ENSP00000462950.1:n.193+5363_193+5364dup
NM_058195.3:c.193+5363_193+5364dup , LRG_11t2:c.193+5363_193+5364dup	NP_478102.2:n.193+5363_193+5364dup
XM_011517678.1:c.*1154_*1155dup	XP_011515980.1:n.*1154_*1155dup
XM_011517679.1:c.-4+6045_-4+6046dup	XP_011515981.1:n.-4+6045_-4+6046dup
XR_929161.1:n.340+5363_340+5364dup
XR_929162.1:n.340+5363_340+5364dup
XR_929163.1:n.289+5363_289+5364dup
NM_001363763.1:c.-4+6045_-4+6046dup	NP_001350692.1:n.-4+6045_-4+6046dup
NM_001363763.2:c.-4+6045_-4+6046dup	NP_001350692.1:n.-4+6045_-4+6046dup
NM_058195.4:c.193+5363_193+5364dup MANE Plus Clinical	NP_478102.2:n.193+5363_193+5364dup