Canonical Allele Identifier: CA645552494

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 2680555
• ClinVar RCV Id: RCV003475646
• COSMIC: COSM23610

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971123_21971141dup , CM000671.2:g.21971123_21971141dup	GRCh38
NC_000009.11:g.21971122_21971140dup , CM000671.1:g.21971122_21971140dup	GRCh37
NC_000009.10:g.21961122_21961140dup	NCBI36
NG_007485.1:g.28358_28376dup , LRG_11:g.28358_28376dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.225_243dup MANE Select	ENSP00000307101.5:p.Val82ArgfsTer?
ENST00000404796.3:c.348-58310_348-58292dup	ENSP00000385916.2:n.348-58310_348-58292dup
ENST00000579755.2:c.268_286dup MANE Plus Clinical	ENSP00000462950.1:p.Arg96ProfsTer?
ENST00000304494.9:c.225_243dup	ENSP00000307101.5:p.Val82ArgfsTer?
ENST00000361570.4:c.268_286-1dup
ENST00000380150.2:n.199_217dup
ENST00000380151.3:c.499_517dup	ENSP00000369496.3:n.499_517dup
ENST00000404796.2:c.348-58310_348-58292dup	ENSP00000385916.2:n.348-58310_348-58292dup
ENST00000479692.2:c.72_90dup	ENSP00000466887.1:p.Val31ArgfsTer?
ENST00000494262.5:c.72_90dup	ENSP00000464952.1:p.Val31ArgfsTer?
ENST00000497750.1:c.72_90dup	ENSP00000468510.1:p.Val31ArgfsTer?
ENST00000498124.1:c.225_243dup	ENSP00000418915.1:p.Val82ArgfsTer?
ENST00000498628.6:c.72_90dup	ENSP00000467857.1:p.Val31ArgfsTer?
ENST00000530628.2:c.268_286dup	ENSP00000432664.2:p.Arg96ProfsTer?
ENST00000578845.2:c.72_90dup	ENSP00000467390.1:p.Val31ArgfsTer?
ENST00000579122.1:c.225_243dup	ENSP00000464202.1:p.Val82ArgfsTer?
ENST00000579755.1:c.268_286dup	ENSP00000462950.1:p.Arg96ProfsTer?
NM_000077.4:c.225_243dup , LRG_11t1:c.225_243dup	NP_000068.1:p.Val82ArgfsTer?
NM_001195132.1:c.225_243dup	NP_001182061.1:p.Val82ArgfsTer?
NM_058195.3:c.268_286dup , LRG_11t2:c.268_286dup	NP_478102.2:p.Arg96ProfsTer?
NM_058197.4:c.499_517dup	NP_478104.2:n.499_517dup
XM_005251343.1:c.72_90dup	XP_005251400.1:p.Val31ArgfsTer?
XM_011517675.1:c.225_243dup	XP_011515977.1:p.Val82ArgfsTer?
XM_011517676.1:c.225_243dup	XP_011515978.1:p.Val82ArgfsTer?
XM_011517679.1:c.72_90dup	XP_011515981.1:p.Val31ArgfsTer?
XR_929159.1:n.626_644dup
XR_929161.1:n.415_433dup
XR_929162.1:n.415_433dup
XR_929163.1:n.364_382dup
XR_929164.1:n.147_165dup
NM_001363763.1:c.72_90dup	NP_001350692.1:p.Val31ArgfsTer?
XM_011517675.2:c.225_243dup	XP_011515977.1:p.Val82ArgfsTer?
XM_011517676.2:c.225_243dup	XP_011515978.1:p.Val82ArgfsTer?
XR_929159.2:n.555_573dup
NM_001363763.2:c.72_90dup	NP_001350692.1:p.Val31ArgfsTer?
NM_000077.5:c.225_243dup MANE Select	NP_000068.1:p.Val82ArgfsTer?
NM_001195132.2:c.225_243dup	NP_001182061.1:p.Val82ArgfsTer?
NM_058195.4:c.268_286dup MANE Plus Clinical	NP_478102.2:p.Arg96ProfsTer?
NM_058197.5:c.*148_*166dup	NP_478104.2:n.*148_*166dup