Canonical Allele Identifier: CA2580616161

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1405937
• ClinVar RCV Id: RCV002407048 ; RCV001935304
• dbSNP Id: rs2131096063

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971174_21971176dup , CM000671.2:g.21971174_21971176dup	GRCh38
NC_000009.11:g.21971173_21971175dup , CM000671.1:g.21971173_21971175dup	GRCh37
NC_000009.10:g.21961173_21961175dup	NCBI36
NG_007485.1:g.28325_28327dup , LRG_11:g.28325_28327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.192_194dup MANE Select	ENSP00000307101.5:p.Leu65_His66insLeu
ENST00000404796.3:c.348-58259_348-58257dup	ENSP00000385916.2:n.348-58259_348-58257dup
ENST00000579755.2:c.235_237dup MANE Plus Clinical	ENSP00000462950.1:p.Ala79_Pro80insAla
ENST00000304494.9:c.192_194dup	ENSP00000307101.5:p.Leu65_His66insLeu
ENST00000361570.4:c.235_237dup	ENSP00000355153.4:p.Ala79_Pro80insAla
ENST00000380150.2:n.166_168dup
ENST00000380151.3:c.466_468dup	ENSP00000369496.3:n.466_468dup
ENST00000404796.2:c.348-58259_348-58257dup	ENSP00000385916.2:n.348-58259_348-58257dup
ENST00000479692.2:c.39_41dup	ENSP00000466887.1:p.Leu14_His15insLeu
ENST00000494262.5:c.39_41dup	ENSP00000464952.1:p.Leu14_His15insLeu
ENST00000497750.1:c.39_41dup	ENSP00000468510.1:p.Leu14_His15insLeu
ENST00000498124.1:c.192_194dup	ENSP00000418915.1:p.Leu65_His66insLeu
ENST00000498628.6:c.39_41dup	ENSP00000467857.1:p.Leu14_His15insLeu
ENST00000530628.2:c.235_237dup	ENSP00000432664.2:p.Ala79_Pro80insAla
ENST00000578845.2:c.39_41dup	ENSP00000467390.1:p.Leu14_His15insLeu
ENST00000579122.1:c.192_194dup	ENSP00000464202.1:p.Leu65_His66insLeu
ENST00000579755.1:c.235_237dup	ENSP00000462950.1:p.Ala79_Pro80insAla
NM_000077.4:c.192_194dup , LRG_11t1:c.192_194dup	NP_000068.1:p.Leu65_His66insLeu
NM_001195132.1:c.192_194dup	NP_001182061.1:p.Leu65_His66insLeu
NM_058195.3:c.235_237dup , LRG_11t2:c.235_237dup	NP_478102.2:p.Ala79_Pro80insAla
NM_058197.4:c.466_468dup	NP_478104.2:n.466_468dup
XM_005251343.1:c.39_41dup	XP_005251400.1:p.Leu14_His15insLeu
XM_011517675.1:c.192_194dup	XP_011515977.1:p.Leu65_His66insLeu
XM_011517676.1:c.192_194dup	XP_011515978.1:p.Leu65_His66insLeu
XM_011517679.1:c.39_41dup	XP_011515981.1:p.Leu14_His15insLeu
XR_929159.1:n.593_595dup
XR_929161.1:n.382_384dup
XR_929162.1:n.382_384dup
XR_929163.1:n.331_333dup
XR_929164.1:n.114_116dup
NM_001363763.1:c.39_41dup	NP_001350692.1:p.Leu14_His15insLeu
XM_011517675.2:c.192_194dup	XP_011515977.1:p.Leu65_His66insLeu
XM_011517676.2:c.192_194dup	XP_011515978.1:p.Leu65_His66insLeu
XR_929159.2:n.522_524dup
NM_001363763.2:c.39_41dup	NP_001350692.1:p.Leu14_His15insLeu
NM_000077.5:c.192_194dup MANE Select	NP_000068.1:p.Leu65_His66insLeu
NM_001195132.2:c.192_194dup	NP_001182061.1:p.Leu65_His66insLeu
NM_058195.4:c.235_237dup MANE Plus Clinical	NP_478102.2:p.Ala79_Pro80insAla
NM_058197.5:c.*115_*117dup	NP_478104.2:n.*115_*117dup