Canonical Allele Identifier: CA645552465

Gene: CDKN2A

Linked Data

• COSMIC: COSM12529

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971074dup , CM000671.2:g.21971074dup	GRCh38
NC_000009.11:g.21971073dup , CM000671.1:g.21971073dup	GRCh37
NC_000009.10:g.21961073dup	NCBI36
NG_007485.1:g.28419dup , LRG_11:g.28419dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.286dup MANE Select	ENSP00000307101.5:p.Val96GlyfsTer24
ENST00000404796.3:c.348-58359dup	ENSP00000385916.2:n.348-58359dup
ENST00000579755.2:c.329dup MANE Plus Clinical	ENSP00000462950.1:p.Ala111CysfsTer?
ENST00000304494.9:c.286dup	ENSP00000307101.5:p.Val96GlyfsTer24
ENST00000361570.4:c.328dup	ENSP00000355153.4:p.Val110GlyfsTer24
ENST00000380150.2:n.260dup
ENST00000380151.3:c.560dup	ENSP00000369496.3:n.560dup
ENST00000404796.2:c.348-58359dup	ENSP00000385916.2:n.348-58359dup
ENST00000479692.2:c.133dup	ENSP00000466887.1:p.Val45GlyfsTer24
ENST00000494262.5:c.133dup	ENSP00000464952.1:p.Val45GlyfsTer24
ENST00000497750.1:c.133dup	ENSP00000468510.1:p.Val45GlyfsTer24
ENST00000498124.1:c.286dup	ENSP00000418915.1:p.Val96GlyfsTer24
ENST00000498628.6:c.133dup	ENSP00000467857.1:p.Val45GlyfsTer24
ENST00000530628.2:c.329dup	ENSP00000432664.2:p.Ala111CysfsTer?
ENST00000578845.2:c.133dup	ENSP00000467390.1:p.Val45GlyfsTer24
ENST00000579122.1:c.286dup	ENSP00000464202.1:p.Val96GlyfsTer24
ENST00000579755.1:c.329dup	ENSP00000462950.1:p.Ala111CysfsTer?
NM_000077.4:c.286dup , LRG_11t1:c.286dup	NP_000068.1:p.Val96GlyfsTer24
NM_001195132.1:c.286dup	NP_001182061.1:p.Val96GlyfsTer24
NM_058195.3:c.329dup , LRG_11t2:c.329dup	NP_478102.2:p.Ala111CysfsTer?
NM_058197.4:c.560dup	NP_478104.2:n.560dup
XM_005251343.1:c.133dup	XP_005251400.1:p.Val45GlyfsTer24
XM_011517675.1:c.286dup	XP_011515977.1:p.Val96GlyfsTer24
XM_011517676.1:c.286dup	XP_011515978.1:p.Val96GlyfsTer24
XM_011517679.1:c.133dup	XP_011515981.1:p.Val45GlyfsTer24
XR_929159.1:n.687dup
XR_929161.1:n.476dup
XR_929162.1:n.476dup
XR_929163.1:n.425dup
XR_929164.1:n.208dup
NM_001363763.1:c.133dup	NP_001350692.1:p.Val45GlyfsTer24
XM_011517675.2:c.286dup	XP_011515977.1:p.Val96GlyfsTer24
XM_011517676.2:c.286dup	XP_011515978.1:p.Val96GlyfsTer24
XR_929159.2:n.616dup
NM_001363763.2:c.133dup	NP_001350692.1:p.Val45GlyfsTer24
NM_000077.5:c.286dup MANE Select	NP_000068.1:p.Val96GlyfsTer24
NM_001195132.2:c.286dup	NP_001182061.1:p.Val96GlyfsTer24
NM_058195.4:c.329dup MANE Plus Clinical	NP_478102.2:p.Ala111CysfsTer?
NM_058197.5:c.*209dup	NP_478104.2:n.*209dup