Canonical Allele Identifier: CA645552485

Gene: CDKN2A

Linked Data

• COSMIC: COSM23639

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971110dup , CM000671.2:g.21971110dup	GRCh38
NC_000009.11:g.21971109dup , CM000671.1:g.21971109dup	GRCh37
NC_000009.10:g.21961109dup	NCBI36
NG_007485.1:g.28382dup , LRG_11:g.28382dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.249dup MANE Select	ENSP00000307101.5:p.Asp84ArgfsTer?
ENST00000404796.3:c.348-58323dup	ENSP00000385916.2:n.348-58323dup
ENST00000579755.2:c.292dup MANE Plus Clinical	ENSP00000462950.1:p.Arg98ProfsTer?
ENST00000304494.9:c.249dup	ENSP00000307101.5:p.Asp84ArgfsTer?
ENST00000361570.4:c.291dup	ENSP00000355153.4:p.Asp98ArgfsTer?
ENST00000380150.2:n.223dup
ENST00000380151.3:c.523dup	ENSP00000369496.3:n.523dup
ENST00000404796.2:c.348-58323dup	ENSP00000385916.2:n.348-58323dup
ENST00000479692.2:c.96dup	ENSP00000466887.1:p.Asp33ArgfsTer?
ENST00000494262.5:c.96dup	ENSP00000464952.1:p.Asp33ArgfsTer?
ENST00000497750.1:c.96dup	ENSP00000468510.1:p.Asp33ArgfsTer?
ENST00000498124.1:c.249dup	ENSP00000418915.1:p.Asp84ArgfsTer?
ENST00000498628.6:c.96dup	ENSP00000467857.1:p.Asp33ArgfsTer?
ENST00000530628.2:c.292dup	ENSP00000432664.2:p.Arg98ProfsTer?
ENST00000578845.2:c.96dup	ENSP00000467390.1:p.Asp33ArgfsTer?
ENST00000579122.1:c.249dup	ENSP00000464202.1:p.Asp84ArgfsTer?
ENST00000579755.1:c.292dup	ENSP00000462950.1:p.Arg98ProfsTer?
NM_000077.4:c.249dup , LRG_11t1:c.249dup	NP_000068.1:p.Asp84ArgfsTer?
NM_001195132.1:c.249dup	NP_001182061.1:p.Asp84ArgfsTer?
NM_058195.3:c.292dup , LRG_11t2:c.292dup	NP_478102.2:p.Arg98ProfsTer?
NM_058197.4:c.523dup	NP_478104.2:n.523dup
XM_005251343.1:c.96dup	XP_005251400.1:p.Asp33ArgfsTer?
XM_011517675.1:c.249dup	XP_011515977.1:p.Asp84ArgfsTer?
XM_011517676.1:c.249dup	XP_011515978.1:p.Asp84ArgfsTer?
XM_011517679.1:c.96dup	XP_011515981.1:p.Asp33ArgfsTer?
XR_929159.1:n.650dup
XR_929161.1:n.439dup
XR_929162.1:n.439dup
XR_929163.1:n.388dup
XR_929164.1:n.171dup
NM_001363763.1:c.96dup	NP_001350692.1:p.Asp33ArgfsTer?
XM_011517675.2:c.249dup	XP_011515977.1:p.Asp84ArgfsTer?
XM_011517676.2:c.249dup	XP_011515978.1:p.Asp84ArgfsTer?
XR_929159.2:n.579dup
NM_001363763.2:c.96dup	NP_001350692.1:p.Asp33ArgfsTer?
NM_000077.5:c.249dup MANE Select	NP_000068.1:p.Asp84ArgfsTer?
NM_001195132.2:c.249dup	NP_001182061.1:p.Asp84ArgfsTer?
NM_058195.4:c.292dup MANE Plus Clinical	NP_478102.2:p.Arg98ProfsTer?
NM_058197.5:c.*172dup	NP_478104.2:n.*172dup