Canonical Allele Identifier: CA645552424

Gene: CDKN2A

Linked Data

• COSMIC: COSM13781 ; COSM18439

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970953_21970980del , CM000671.2:g.21970953_21970980del	GRCh38
NC_000009.11:g.21970952_21970979del , CM000671.1:g.21970952_21970979del	GRCh37
NC_000009.10:g.21960952_21960979del	NCBI36
NG_007485.1:g.28516_28543del , LRG_11:g.28516_28543del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.383_410del MANE Select	ENSP00000307101.5:p.Arg128ProfsTer9
ENST00000404796.3:c.348-58480_348-58453del	ENSP00000385916.2:n.348-58480_348-58453de...
ENST00000579755.2:c.*27_*54del MANE Plus Clinical	ENSP00000462950.1:n.*27_*54del
ENST00000304494.9:c.383_410del	ENSP00000307101.5:p.Arg128ProfsTer9
ENST00000361570.4:c.425_452del	ENSP00000355153.4:p.Arg142ProfsTer9
ENST00000380150.2:n.357_384del
ENST00000380151.3:c.657_684del	ENSP00000369496.3:n.657_684del
ENST00000404796.2:c.348-58480_348-58453del	ENSP00000385916.2:n.348-58480_348-58453de...
ENST00000479692.2:c.230_257del	ENSP00000466887.1:p.Arg77ProfsTer9
ENST00000494262.5:c.230_257del	ENSP00000464952.1:p.Arg77ProfsTer9
ENST00000497750.1:c.230_257del	ENSP00000468510.1:p.Arg77ProfsTer9
ENST00000498124.1:c.383_410del	ENSP00000418915.1:p.Arg128ProfsTer9
ENST00000498628.6:c.230_257del	ENSP00000467857.1:p.Arg77ProfsTer9
ENST00000530628.2:c.*27_*27+27del
ENST00000578845.2:c.230_257del	ENSP00000467390.1:p.Arg77ProfsTer9
ENST00000579122.1:c.383_383+27del
ENST00000579755.1:c.*27_*54del	ENSP00000462950.1:n.*27_*54del
NM_000077.4:c.383_410del , LRG_11t1:c.383_410del	NP_000068.1:p.Arg128ProfsTer9
NM_001195132.1:c.383_410del	NP_001182061.1:p.Arg128ProfsTer9
NM_058195.3:c.*27_*54del , LRG_11t2:c.*27_*54del	NP_478102.2:n.*27_*54del
NM_058197.4:c.657_684del	NP_478104.2:n.657_684del
XM_005251343.1:c.230_257del	XP_005251400.1:p.Arg77ProfsTer9
XM_011517675.1:c.383_410del	XP_011515977.1:p.Arg128ProfsTer9
XM_011517676.1:c.383_410del	XP_011515978.1:p.Arg128ProfsTer9
XM_011517679.1:c.230_257del	XP_011515981.1:p.Arg77ProfsTer9
XR_929159.1:n.784_811del
XR_929161.1:n.573_600del
XR_929162.1:n.573_600del
XR_929163.1:n.522_549del
XR_929164.1:n.305_332del
NM_001363763.1:c.230_257del	NP_001350692.1:p.Arg77ProfsTer9
XM_011517675.2:c.383_410del	XP_011515977.1:p.Arg128ProfsTer9
XM_011517676.2:c.383_410del	XP_011515978.1:p.Arg128ProfsTer9
XR_929159.2:n.713_740del
NM_001363763.2:c.230_257del	NP_001350692.1:p.Arg77ProfsTer9
NM_000077.5:c.383_410del MANE Select	NP_000068.1:p.Arg128ProfsTer9
NM_001195132.2:c.383_410del	NP_001182061.1:p.Arg128ProfsTer9
NM_058195.4:c.*27_*54del MANE Plus Clinical	NP_478102.2:n.*27_*54del
NM_058197.5:c.*306_*333del	NP_478104.2:n.*306_*333del