Canonical Allele Identifier: CA862193678

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1332047
• ClinVar RCV Id: RCV001804563
• dbSNP Id: rs1327025508
• MyVariant Identifiers: chr9:g.21968225_21968226insT (hg19) ; chr9:g.21968226_21968227insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968229dup , CM000671.2:g.21968229dup	GRCh38
NC_000009.11:g.21968228dup , CM000671.1:g.21968228dup	GRCh37
NC_000009.10:g.21958228dup	NCBI36
NG_007485.1:g.31265dup , LRG_11:g.31265dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*2dup MANE Select	ENSP00000307101.5:n.*2dup
ENST00000404796.3:c.348-61204dup	ENSP00000385916.2:n.348-61204dup
ENST00000579755.2:c.*117dup MANE Plus Clinical	ENSP00000462950.1:n.*117dup
ENST00000304494.9:c.*2dup	ENSP00000307101.5:n.*2dup
ENST00000361570.4:c.*2dup	ENSP00000355153.4:n.*2dup
ENST00000380151.3:c.747dup	ENSP00000369496.3:n.747dup
ENST00000404796.2:c.348-61204dup	ENSP00000385916.2:n.348-61204dup
ENST00000494262.5:c.*2dup	ENSP00000464952.1:n.*2dup
ENST00000498124.1:c.*166dup	ENSP00000418915.1:n.*166dup
ENST00000498628.6:c.*2dup	ENSP00000467857.1:n.*2dup
ENST00000530628.2:c.*43dup	ENSP00000432664.2:n.*43dup
ENST00000578845.2:c.*2dup	ENSP00000467390.1:n.*2dup
ENST00000579122.1:c.399dup	ENSP00000464202.1:p.Glu134ArgfsTer?
ENST00000579755.1:c.*117dup	ENSP00000462950.1:n.*117dup
NM_000077.4:c.*2dup , LRG_11t1:c.*2dup	NP_000068.1:n.*2dup
NM_001195132.1:c.*166dup	NP_001182061.1:n.*166dup
NM_058195.3:c.*117dup , LRG_11t2:c.*117dup	NP_478102.2:n.*117dup
NM_058197.4:c.747dup	NP_478104.2:n.747dup
XM_005251343.1:c.*2dup	XP_005251400.1:n.*2dup
XM_011517679.1:c.*2dup	XP_011515981.1:n.*2dup
NM_001363763.1:c.*2dup	NP_001350692.1:n.*2dup
NM_001363763.2:c.*2dup	NP_001350692.1:n.*2dup
NM_000077.5:c.*2dup MANE Select	NP_000068.1:n.*2dup
NM_001195132.2:c.*166dup	NP_001182061.1:n.*166dup
NM_058195.4:c.*117dup MANE Plus Clinical	NP_478102.2:n.*117dup
NM_058197.5:c.*396dup	NP_478104.2:n.*396dup