Canonical Allele Identifier: CA2580080329

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1781307
• ClinVar RCV Id: RCV002412994

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971163_21971174delinsT , CM000671.2:g.21971163_21971174delinsT	GRCh38
NC_000009.11:g.21971162_21971173delinsT , CM000671.1:g.21971162_21971173delinsT	GRCh37
NC_000009.10:g.21961162_21961173delinsT	NCBI36
NG_007485.1:g.28318_28329delinsA , LRG_11:g.28318_28329delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.185_196delinsA MANE Select	ENSP00000307101.5:p.Leu62GlnfsTer?
ENST00000404796.3:c.348-58270_348-58259delinsT	ENSP00000385916.2:n.348-58270_348-58259delinsT
ENST00000579755.2:c.228_239delinsA MANE Plus Clinical	ENSP00000462950.1:p.Ala77ThrfsTer?
ENST00000304494.9:c.185_196delinsA	ENSP00000307101.5:p.Leu62GlnfsTer?
ENST00000361570.4:c.228_239delinsA	ENSP00000355153.4:p.Ala77ThrfsTer?
ENST00000380150.2:n.159_170delinsA
ENST00000380151.3:c.459_470delinsA	ENSP00000369496.3:n.459_470delinsA
ENST00000404796.2:c.348-58270_348-58259delinsT	ENSP00000385916.2:n.348-58270_348-58259delinsT
ENST00000479692.2:c.32_43delinsA	ENSP00000466887.1:p.Leu11GlnfsTer?
ENST00000494262.5:c.32_43delinsA	ENSP00000464952.1:p.Leu11GlnfsTer?
ENST00000497750.1:c.32_43delinsA	ENSP00000468510.1:p.Leu11GlnfsTer?
ENST00000498124.1:c.185_196delinsA	ENSP00000418915.1:p.Leu62GlnfsTer?
ENST00000498628.6:c.32_43delinsA	ENSP00000467857.1:p.Leu11GlnfsTer?
ENST00000530628.2:c.228_239delinsA	ENSP00000432664.2:p.Ala77ThrfsTer?
ENST00000578845.2:c.32_43delinsA	ENSP00000467390.1:p.Leu11GlnfsTer?
ENST00000579122.1:c.185_196delinsA	ENSP00000464202.1:p.Leu62GlnfsTer?
ENST00000579755.1:c.228_239delinsA	ENSP00000462950.1:p.Ala77ThrfsTer?
NM_000077.4:c.185_196delinsA , LRG_11t1:c.185_196delinsA	NP_000068.1:p.Leu62GlnfsTer?
NM_001195132.1:c.185_196delinsA	NP_001182061.1:p.Leu62GlnfsTer?
NM_058195.3:c.228_239delinsA , LRG_11t2:c.228_239delinsA	NP_478102.2:p.Ala77ThrfsTer?
NM_058197.4:c.459_470delinsA	NP_478104.2:n.459_470delinsA
XM_005251343.1:c.32_43delinsA	XP_005251400.1:p.Leu11GlnfsTer?
XM_011517675.1:c.185_196delinsA	XP_011515977.1:p.Leu62GlnfsTer?
XM_011517676.1:c.185_196delinsA	XP_011515978.1:p.Leu62GlnfsTer?
XM_011517679.1:c.32_43delinsA	XP_011515981.1:p.Leu11GlnfsTer?
XR_929159.1:n.586_597delinsA
XR_929161.1:n.375_386delinsA
XR_929162.1:n.375_386delinsA
XR_929163.1:n.324_335delinsA
XR_929164.1:n.107_118delinsA
NM_001363763.1:c.32_43delinsA	NP_001350692.1:p.Leu11GlnfsTer?
XM_011517675.2:c.185_196delinsA	XP_011515977.1:p.Leu62GlnfsTer?
XM_011517676.2:c.185_196delinsA	XP_011515978.1:p.Leu62GlnfsTer?
XR_929159.2:n.515_526delinsA
NM_001363763.2:c.32_43delinsA	NP_001350692.1:p.Leu11GlnfsTer?
NM_000077.5:c.185_196delinsA MANE Select	NP_000068.1:p.Leu62GlnfsTer?
NM_001195132.2:c.185_196delinsA	NP_001182061.1:p.Leu62GlnfsTer?
NM_058195.4:c.228_239delinsA MANE Plus Clinical	NP_478102.2:p.Ala77ThrfsTer?
NM_058197.5:c.*108_*119delinsA	NP_478104.2:n.*108_*119delinsA