Canonical Allele Identifier: CA645552450

Gene: CDKN2A

Linked Data

• COSMIC: COSM5429698 ; COSM5429699 ; COSM5429700 ; COSM5429701

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971035_21971037dup , CM000671.2:g.21971035_21971037dup	GRCh38
NC_000009.11:g.21971034_21971036dup , CM000671.1:g.21971034_21971036dup	GRCh37
NC_000009.10:g.21961034_21961036dup	NCBI36
NG_007485.1:g.28456_28458dup , LRG_11:g.28456_28458dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.323_325dup MANE Select	ENSP00000307101.5:p.Asp108_Ala109insAsp
ENST00000404796.3:c.348-58398_348-58396dup	ENSP00000385916.2:n.348-58398_348-58396du...
ENST00000579755.2:c.366_368dup MANE Plus Clinical	ENSP00000462950.1:p.Cys123Ter
ENST00000304494.9:c.323_325dup	ENSP00000307101.5:p.Asp108_Ala109insAsp
ENST00000361570.4:c.365_367dup	ENSP00000355153.4:p.Asp122_Ala123insAsp
ENST00000380150.2:n.297_299dup
ENST00000380151.3:c.597_599dup	ENSP00000369496.3:n.597_599dup
ENST00000404796.2:c.348-58398_348-58396dup	ENSP00000385916.2:n.348-58398_348-58396du...
ENST00000479692.2:c.170_172dup	ENSP00000466887.1:p.Asp57_Ala58insAsp
ENST00000494262.5:c.170_172dup	ENSP00000464952.1:p.Asp57_Ala58insAsp
ENST00000497750.1:c.170_172dup	ENSP00000468510.1:p.Asp57_Ala58insAsp
ENST00000498124.1:c.323_325dup	ENSP00000418915.1:p.Asp108_Ala109insAsp
ENST00000498628.6:c.170_172dup	ENSP00000467857.1:p.Asp57_Ala58insAsp
ENST00000530628.2:c.366_368dup	ENSP00000432664.2:p.Cys123Ter
ENST00000578845.2:c.170_172dup	ENSP00000467390.1:p.Asp57_Ala58insAsp
ENST00000579122.1:c.323_325dup	ENSP00000464202.1:p.Asp108_Ala109insAsp
ENST00000579755.1:c.366_368dup	ENSP00000462950.1:p.Cys123Ter
NM_000077.4:c.323_325dup , LRG_11t1:c.323_325dup	NP_000068.1:p.Asp108_Ala109insAsp
NM_001195132.1:c.323_325dup	NP_001182061.1:p.Asp108_Ala109insAsp
NM_058195.3:c.366_368dup , LRG_11t2:c.366_368dup	NP_478102.2:p.Cys123Ter
NM_058197.4:c.597_599dup	NP_478104.2:n.597_599dup
XM_005251343.1:c.170_172dup	XP_005251400.1:p.Asp57_Ala58insAsp
XM_011517675.1:c.323_325dup	XP_011515977.1:p.Asp108_Ala109insAsp
XM_011517676.1:c.323_325dup	XP_011515978.1:p.Asp108_Ala109insAsp
XM_011517679.1:c.170_172dup	XP_011515981.1:p.Asp57_Ala58insAsp
XR_929159.1:n.724_726dup
XR_929161.1:n.513_515dup
XR_929162.1:n.513_515dup
XR_929163.1:n.462_464dup
XR_929164.1:n.245_247dup
NM_001363763.1:c.170_172dup	NP_001350692.1:p.Asp57_Ala58insAsp
XM_011517675.2:c.323_325dup	XP_011515977.1:p.Asp108_Ala109insAsp
XM_011517676.2:c.323_325dup	XP_011515978.1:p.Asp108_Ala109insAsp
XR_929159.2:n.653_655dup
NM_001363763.2:c.170_172dup	NP_001350692.1:p.Asp57_Ala58insAsp
NM_000077.5:c.323_325dup MANE Select	NP_000068.1:p.Asp108_Ala109insAsp
NM_001195132.2:c.323_325dup	NP_001182061.1:p.Asp108_Ala109insAsp
NM_058195.4:c.366_368dup MANE Plus Clinical	NP_478102.2:p.Cys123Ter
NM_058197.5:c.*246_*248dup	NP_478104.2:n.*246_*248dup