Canonical Allele Identifier: CA2695203255

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971054dup , CM000671.2:g.21971054dup	GRCh38
NC_000009.11:g.21971053dup , CM000671.1:g.21971053dup	GRCh37
NC_000009.10:g.21961053dup	NCBI36
NG_007485.1:g.28438dup , LRG_11:g.28438dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.305dup MANE Select	ENSP00000307101.5:p.Arg103AlafsTer17
ENST00000404796.3:c.348-58379dup	ENSP00000385916.2:n.348-58379dup
ENST00000579755.2:c.348dup MANE Plus Clinical	ENSP00000462950.1:p.Ala117ArgfsTer?
ENST00000304494.9:c.305dup	ENSP00000307101.5:p.Arg103AlafsTer17
ENST00000361570.4:c.347dup	ENSP00000355153.4:p.Arg117AlafsTer17
ENST00000380150.2:n.279dup
ENST00000380151.3:c.579dup	ENSP00000369496.3:n.579dup
ENST00000404796.2:c.348-58379dup	ENSP00000385916.2:n.348-58379dup
ENST00000479692.2:c.152dup	ENSP00000466887.1:p.Arg52AlafsTer17
ENST00000494262.5:c.152dup	ENSP00000464952.1:p.Arg52AlafsTer17
ENST00000497750.1:c.152dup	ENSP00000468510.1:p.Arg52AlafsTer17
ENST00000498124.1:c.305dup	ENSP00000418915.1:p.Arg103AlafsTer17
ENST00000498628.6:c.152dup	ENSP00000467857.1:p.Arg52AlafsTer17
ENST00000530628.2:c.348dup	ENSP00000432664.2:p.Ala117ArgfsTer?
ENST00000578845.2:c.152dup	ENSP00000467390.1:p.Arg52AlafsTer17
ENST00000579122.1:c.305dup	ENSP00000464202.1:p.Arg103AlafsTer17
ENST00000579755.1:c.348dup	ENSP00000462950.1:p.Ala117ArgfsTer?
NM_000077.4:c.305dup , LRG_11t1:c.305dup	NP_000068.1:p.Arg103AlafsTer17
NM_001195132.1:c.305dup	NP_001182061.1:p.Arg103AlafsTer17
NM_058195.3:c.348dup , LRG_11t2:c.348dup	NP_478102.2:p.Ala117ArgfsTer?
NM_058197.4:c.579dup	NP_478104.2:n.579dup
XM_005251343.1:c.152dup	XP_005251400.1:p.Arg52AlafsTer17
XM_011517675.1:c.305dup	XP_011515977.1:p.Arg103AlafsTer17
XM_011517676.1:c.305dup	XP_011515978.1:p.Arg103AlafsTer17
XM_011517679.1:c.152dup	XP_011515981.1:p.Arg52AlafsTer17
XR_929159.1:n.706dup
XR_929161.1:n.495dup
XR_929162.1:n.495dup
XR_929163.1:n.444dup
XR_929164.1:n.227dup
NM_001363763.1:c.152dup	NP_001350692.1:p.Arg52AlafsTer17
XM_011517675.2:c.305dup	XP_011515977.1:p.Arg103AlafsTer17
XM_011517676.2:c.305dup	XP_011515978.1:p.Arg103AlafsTer17
XR_929159.2:n.635dup
NM_001363763.2:c.152dup	NP_001350692.1:p.Arg52AlafsTer17
NM_000077.5:c.305dup MANE Select	NP_000068.1:p.Arg103AlafsTer17
NM_001195132.2:c.305dup	NP_001182061.1:p.Arg103AlafsTer17
NM_058195.4:c.348dup MANE Plus Clinical	NP_478102.2:p.Ala117ArgfsTer?
NM_058197.5:c.*228dup	NP_478104.2:n.*228dup