Canonical Allele Identifier: CA2695203267

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971165_21971168dup , CM000671.2:g.21971165_21971168dup	GRCh38
NC_000009.11:g.21971164_21971167dup , CM000671.1:g.21971164_21971167dup	GRCh37
NC_000009.10:g.21961164_21961167dup	NCBI36
NG_007485.1:g.28324_28327dup , LRG_11:g.28324_28327dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.191_194dup MANE Select	ENSP00000307101.5:p.His66AlafsTer?
ENST00000404796.3:c.348-58268_348-58265dup	ENSP00000385916.2:n.348-58268_348-58265dup
ENST00000579755.2:c.234_237dup MANE Plus Clinical	ENSP00000462950.1:p.Pro80CysfsTer?
ENST00000304494.9:c.191_194dup	ENSP00000307101.5:p.His66AlafsTer?
ENST00000361570.4:c.234_237dup	ENSP00000355153.4:p.Pro80CysfsTer?
ENST00000380150.2:n.165_168dup
ENST00000380151.3:c.465_468dup	ENSP00000369496.3:n.465_468dup
ENST00000404796.2:c.348-58268_348-58265dup	ENSP00000385916.2:n.348-58268_348-58265dup
ENST00000479692.2:c.38_41dup	ENSP00000466887.1:p.His15AlafsTer?
ENST00000494262.5:c.38_41dup	ENSP00000464952.1:p.His15AlafsTer?
ENST00000497750.1:c.38_41dup	ENSP00000468510.1:p.His15AlafsTer?
ENST00000498124.1:c.191_194dup	ENSP00000418915.1:p.His66AlafsTer?
ENST00000498628.6:c.38_41dup	ENSP00000467857.1:p.His15AlafsTer?
ENST00000530628.2:c.234_237dup	ENSP00000432664.2:p.Pro80CysfsTer?
ENST00000578845.2:c.38_41dup	ENSP00000467390.1:p.His15AlafsTer?
ENST00000579122.1:c.191_194dup	ENSP00000464202.1:p.His66AlafsTer?
ENST00000579755.1:c.234_237dup	ENSP00000462950.1:p.Pro80CysfsTer?
NM_000077.4:c.191_194dup , LRG_11t1:c.191_194dup	NP_000068.1:p.His66AlafsTer?
NM_001195132.1:c.191_194dup	NP_001182061.1:p.His66AlafsTer?
NM_058195.3:c.234_237dup , LRG_11t2:c.234_237dup	NP_478102.2:p.Pro80CysfsTer?
NM_058197.4:c.465_468dup	NP_478104.2:n.465_468dup
XM_005251343.1:c.38_41dup	XP_005251400.1:p.His15AlafsTer?
XM_011517675.1:c.191_194dup	XP_011515977.1:p.His66AlafsTer?
XM_011517676.1:c.191_194dup	XP_011515978.1:p.His66AlafsTer?
XM_011517679.1:c.38_41dup	XP_011515981.1:p.His15AlafsTer?
XR_929159.1:n.592_595dup
XR_929161.1:n.381_384dup
XR_929162.1:n.381_384dup
XR_929163.1:n.330_333dup
XR_929164.1:n.113_116dup
NM_001363763.1:c.38_41dup	NP_001350692.1:p.His15AlafsTer?
XM_011517675.2:c.191_194dup	XP_011515977.1:p.His66AlafsTer?
XM_011517676.2:c.191_194dup	XP_011515978.1:p.His66AlafsTer?
XR_929159.2:n.521_524dup
NM_001363763.2:c.38_41dup	NP_001350692.1:p.His15AlafsTer?
NM_000077.5:c.191_194dup MANE Select	NP_000068.1:p.His66AlafsTer?
NM_001195132.2:c.191_194dup	NP_001182061.1:p.His66AlafsTer?
NM_058195.4:c.234_237dup MANE Plus Clinical	NP_478102.2:p.Pro80CysfsTer?
NM_058197.5:c.*114_*117dup	NP_478104.2:n.*114_*117dup