Canonical Allele Identifier: CA862193468

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1223836404
• gnomAD v3: 9-21968024-T-TA
• gnomAD v4: 9-21968024-T-TA
• MyVariant Identifiers: chr9:g.21968023_21968024insA (hg19) ; chr9:g.21968024_21968025insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968030dup , CM000671.2:g.21968030dup	GRCh38
NC_000009.11:g.21968029dup , CM000671.1:g.21968029dup	GRCh37
NC_000009.10:g.21958029dup	NCBI36
NG_007485.1:g.31467dup , LRG_11:g.31467dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*204dup MANE Select	ENSP00000307101.5:n.*204dup
ENST00000404796.3:c.348-61403dup	ENSP00000385916.2:n.348-61403dup
ENST00000579755.2:c.*319dup MANE Plus Clinical	ENSP00000462950.1:n.*319dup
ENST00000304494.9:c.*204dup	ENSP00000307101.5:n.*204dup
ENST00000361570.4:c.*204dup	ENSP00000355153.4:n.*204dup
ENST00000404796.2:c.348-61403dup	ENSP00000385916.2:n.348-61403dup
ENST00000530628.2:c.*245dup	ENSP00000432664.2:n.*245dup
ENST00000578845.2:c.*204dup	ENSP00000467390.1:n.*204dup
ENST00000579122.1:c.*184dup	ENSP00000464202.1:n.*184dup
ENST00000579755.1:c.*319dup	ENSP00000462950.1:n.*319dup
NM_000077.4:c.*204dup , LRG_11t1:c.*204dup	NP_000068.1:n.*204dup
NM_001195132.1:c.*368dup	NP_001182061.1:n.*368dup
NM_058195.3:c.*319dup , LRG_11t2:c.*319dup	NP_478102.2:n.*319dup
NM_058197.4:c.949dup	NP_478104.2:n.949dup
XM_005251343.1:c.*204dup	XP_005251400.1:n.*204dup
XM_011517679.1:c.*204dup	XP_011515981.1:n.*204dup
NM_001363763.1:c.*204dup	NP_001350692.1:n.*204dup
NM_001363763.2:c.*204dup	NP_001350692.1:n.*204dup
NM_000077.5:c.*204dup MANE Select	NP_000068.1:n.*204dup
NM_001195132.2:c.*368dup	NP_001182061.1:n.*368dup
NM_058195.4:c.*319dup MANE Plus Clinical	NP_478102.2:n.*319dup
NM_058197.5:c.*598dup	NP_478104.2:n.*598dup