Canonical Allele Identifier: CA915947481

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 825010
• ClinVar RCV Id: RCV001022717 ; RCV001049532 ; RCV003153890 ; RCV003473596
• dbSNP Id: rs1587330284

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970893_21970902del , CM000671.2:g.21970893_21970902del	GRCh38
NC_000009.11:g.21970892_21970901del , CM000671.1:g.21970892_21970901del	GRCh37
NC_000009.10:g.21960892_21960901del	NCBI36
NG_007485.1:g.28591_28600del , LRG_11:g.28591_28600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.457+1_457+10del
ENST00000404796.3:c.348-58540_348-58531del	ENSP00000385916.2:n.348-58540_348-58531del
ENST00000579755.2:c.*101+1_*101+10del
ENST00000304494.9:c.457+1_457+10del
ENST00000361570.4:c.499+1_499+10del
ENST00000380150.2:n.431+1_431+10del
ENST00000380151.3:c.731+1_731+10del
ENST00000404796.2:c.348-58540_348-58531del	ENSP00000385916.2:n.348-58540_348-58531del
ENST00000479692.2:c.304+1_304+10del
ENST00000494262.5:c.304+1_304+10del
ENST00000497750.1:c.305_314del	ENSP00000468510.1:p.Gly102AspfsTer?
ENST00000498124.1:c.457+1_457+10del
ENST00000498628.6:c.304+1_304+10del
ENST00000530628.2:c.*27+75_*27+84del	ENSP00000432664.2:n.*27+75_*27+84del
ENST00000578845.2:c.304+1_304+10del
ENST00000579122.1:c.383+75_383+84del	ENSP00000464202.1:n.383+75_383+84del
ENST00000579755.1:c.*101+1_*101+10del
NM_000077.4:c.457+1_457+10del , LRG_11t1:c.457+1_457+10del
NM_001195132.1:c.457+1_457+10del
NM_058195.3:c.*101+1_*101+10del , LRG_11t2:c.*101+1_*101+10del
NM_058197.4:c.731+1_731+10del
XM_005251343.1:c.304+1_304+10del
XM_011517675.1:c.457+1_457+10del
XM_011517676.1:c.457+1_457+10del
XM_011517679.1:c.304+1_304+10del
XR_929159.1:n.858+1_858+10del
XR_929161.1:n.647+1_647+10del
XR_929162.1:n.647+1_647+10del
XR_929163.1:n.596+1_596+10del
XR_929164.1:n.379+1_379+10del
NM_001363763.1:c.304+1_304+10del
XM_011517675.2:c.457+1_457+10del
XM_011517676.2:c.457+1_457+10del
XR_929159.2:n.787+1_787+10del
NM_001363763.2:c.304+1_304+10del
NM_000077.5:c.457+1_457+10del
NM_001195132.2:c.457+1_457+10del
NM_058195.4:c.*101+1_*101+10del
NM_058197.5:c.*380+1_*380+10del