Canonical Allele Identifier: CA658656022

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 463503
• ClinVar RCV Id: RCV000543773
• dbSNP Id: rs1554653915

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970966_21970978delinsCGCATC , CM000671.2:g.21970966_21970978delinsCGCATC	GRCh38
NC_000009.11:g.21970965_21970977delinsCGCATC , CM000671.1:g.21970965_21970977delinsCGCATC	GRCh37
NC_000009.10:g.21960965_21960977delinsCGCATC	NCBI36
NG_007485.1:g.28514_28526delinsGATGCG , LRG_11:g.28514_28526delinsGATGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.381_393delinsGATGCG MANE Select	ENSP00000307101.5:p.Arg128MetfsTer16
ENST00000404796.3:c.348-58467_348-58455delinsCGCATC	ENSP00000385916.2:n.348-58467_348-58455delinsCGCATC
ENST00000579755.2:c.*25_*37delinsGATGCG MANE Plus Clinical	ENSP00000462950.1:n.*25_*37delinsGATGCG
ENST00000304494.9:c.381_393delinsGATGCG	ENSP00000307101.5:p.Arg128MetfsTer16
ENST00000361570.4:c.423_435delinsGATGCG	ENSP00000355153.4:p.Arg142MetfsTer16
ENST00000380150.2:n.355_367delinsGATGCG
ENST00000380151.3:c.655_667delinsGATGCG	ENSP00000369496.3:n.655_667delinsGATGCG
ENST00000404796.2:c.348-58467_348-58455delinsCGCATC	ENSP00000385916.2:n.348-58467_348-58455delinsCGCATC
ENST00000479692.2:c.228_240delinsGATGCG	ENSP00000466887.1:p.Arg77MetfsTer16
ENST00000494262.5:c.228_240delinsGATGCG	ENSP00000464952.1:p.Arg77MetfsTer16
ENST00000497750.1:c.228_240delinsGATGCG	ENSP00000468510.1:p.Arg77MetfsTer16
ENST00000498124.1:c.381_393delinsGATGCG	ENSP00000418915.1:p.Arg128MetfsTer16
ENST00000498628.6:c.228_240delinsGATGCG	ENSP00000467857.1:p.Arg77MetfsTer16
ENST00000530628.2:c.*25_*27+10delinsGATGCG
ENST00000578845.2:c.228_240delinsGATGCG	ENSP00000467390.1:p.Arg77MetfsTer16
ENST00000579122.1:c.381_383+10delinsGATGCG
ENST00000579755.1:c.*25_*37delinsGATGCG	ENSP00000462950.1:n.*25_*37delinsGATGCG
NM_000077.4:c.381_393delinsGATGCG , LRG_11t1:c.381_393delinsGATGCG	NP_000068.1:p.Arg128MetfsTer16
NM_001195132.1:c.381_393delinsGATGCG	NP_001182061.1:p.Arg128MetfsTer16
NM_058195.3:c.*25_*37delinsGATGCG , LRG_11t2:c.*25_*37delinsGATGCG	NP_478102.2:n.*25_*37delinsGATGCG
NM_058197.4:c.655_667delinsGATGCG	NP_478104.2:n.655_667delinsGATGCG
XM_005251343.1:c.228_240delinsGATGCG	XP_005251400.1:p.Arg77MetfsTer16
XM_011517675.1:c.381_393delinsGATGCG	XP_011515977.1:p.Arg128MetfsTer16
XM_011517676.1:c.381_393delinsGATGCG	XP_011515978.1:p.Arg128MetfsTer16
XM_011517679.1:c.228_240delinsGATGCG	XP_011515981.1:p.Arg77MetfsTer16
XR_929159.1:n.782_794delinsGATGCG
XR_929161.1:n.571_583delinsGATGCG
XR_929162.1:n.571_583delinsGATGCG
XR_929163.1:n.520_532delinsGATGCG
XR_929164.1:n.303_315delinsGATGCG
NM_001363763.1:c.228_240delinsGATGCG	NP_001350692.1:p.Arg77MetfsTer16
XM_011517675.2:c.381_393delinsGATGCG	XP_011515977.1:p.Arg128MetfsTer16
XM_011517676.2:c.381_393delinsGATGCG	XP_011515978.1:p.Arg128MetfsTer16
XR_929159.2:n.711_723delinsGATGCG
NM_001363763.2:c.228_240delinsGATGCG	NP_001350692.1:p.Arg77MetfsTer16
NM_000077.5:c.381_393delinsGATGCG MANE Select	NP_000068.1:p.Arg128MetfsTer16
NM_001195132.2:c.381_393delinsGATGCG	NP_001182061.1:p.Arg128MetfsTer16
NM_058195.4:c.*25_*37delinsGATGCG MANE Plus Clinical	NP_478102.2:n.*25_*37delinsGATGCG
NM_058197.5:c.*304_*316delinsGATGCG	NP_478104.2:n.*304_*316delinsGATGCG