Canonical Allele Identifier: CA2971048860

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970958dup , CM000671.2:g.21970958dup	GRCh38
NC_000009.11:g.21970957dup , CM000671.1:g.21970957dup	GRCh37
NC_000009.10:g.21960957dup	NCBI36
NG_007485.1:g.28534dup , LRG_11:g.28534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.401dup MANE Select	ENSP00000307101.5:p.Thr137HisfsTer5
ENST00000404796.3:c.348-58475dup	ENSP00000385916.2:n.348-58475dup
ENST00000579755.2:c.*45dup MANE Plus Clinical	ENSP00000462950.1:n.*45dup
ENST00000304494.9:c.401dup	ENSP00000307101.5:p.Thr137HisfsTer5
ENST00000361570.4:c.443dup	ENSP00000355153.4:p.Thr151HisfsTer5
ENST00000380150.2:n.375dup
ENST00000380151.3:c.675dup	ENSP00000369496.3:n.675dup
ENST00000404796.2:c.348-58475dup	ENSP00000385916.2:n.348-58475dup
ENST00000479692.2:c.248dup	ENSP00000466887.1:p.Thr86HisfsTer5
ENST00000494262.5:c.248dup	ENSP00000464952.1:p.Thr86HisfsTer5
ENST00000497750.1:c.248dup	ENSP00000468510.1:p.Thr86HisfsTer5
ENST00000498124.1:c.401dup	ENSP00000418915.1:p.Thr137HisfsTer5
ENST00000498628.6:c.248dup	ENSP00000467857.1:p.Thr86HisfsTer5
ENST00000530628.2:c.*27+18dup	ENSP00000432664.2:n.*27+18dup
ENST00000578845.2:c.248dup	ENSP00000467390.1:p.Thr86HisfsTer5
ENST00000579122.1:c.383+18dup	ENSP00000464202.1:n.383+18dup
ENST00000579755.1:c.*45dup	ENSP00000462950.1:n.*45dup
NM_000077.4:c.401dup , LRG_11t1:c.401dup	NP_000068.1:p.Thr137HisfsTer5
NM_001195132.1:c.401dup	NP_001182061.1:p.Thr137HisfsTer5
NM_058195.3:c.*45dup , LRG_11t2:c.*45dup	NP_478102.2:n.*45dup
NM_058197.4:c.675dup	NP_478104.2:n.675dup
XM_005251343.1:c.248dup	XP_005251400.1:p.Thr86HisfsTer5
XM_011517675.1:c.401dup	XP_011515977.1:p.Thr137HisfsTer5
XM_011517676.1:c.401dup	XP_011515978.1:p.Thr137HisfsTer5
XM_011517679.1:c.248dup	XP_011515981.1:p.Thr86HisfsTer5
XR_929159.1:n.802dup
XR_929161.1:n.591dup
XR_929162.1:n.591dup
XR_929163.1:n.540dup
XR_929164.1:n.323dup
NM_001363763.1:c.248dup	NP_001350692.1:p.Thr86HisfsTer5
XM_011517675.2:c.401dup	XP_011515977.1:p.Thr137HisfsTer5
XM_011517676.2:c.401dup	XP_011515978.1:p.Thr137HisfsTer5
XR_929159.2:n.731dup
NM_001363763.2:c.248dup	NP_001350692.1:p.Thr86HisfsTer5
NM_000077.5:c.401dup MANE Select	NP_000068.1:p.Thr137HisfsTer5
NM_001195132.2:c.401dup	NP_001182061.1:p.Thr137HisfsTer5
NM_058195.4:c.*45dup MANE Plus Clinical	NP_478102.2:n.*45dup
NM_058197.5:c.*324dup	NP_478104.2:n.*324dup