Canonical Allele Identifier: CA2739269178

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 2844477
• ClinVar RCV Id: RCV003747360

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971107_21971176del , CM000671.2:g.21971107_21971176del	GRCh38
NC_000009.11:g.21971106_21971175del , CM000671.1:g.21971106_21971175del	GRCh37
NC_000009.10:g.21961106_21961175del	NCBI36
NG_007485.1:g.28321_28390del , LRG_11:g.28321_28390del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.188_257del MANE Select	ENSP00000307101.5:p.Leu63ProfsTer?
ENST00000404796.3:c.348-58326_348-58257del	ENSP00000385916.2:n.348-58326_348-58257de...
ENST00000579755.2:c.231_300del MANE Plus Clinical	ENSP00000462950.1:p.Ala78ArgfsTer?
ENST00000304494.9:c.188_257del	ENSP00000307101.5:p.Leu63ProfsTer?
ENST00000361570.4:c.231_299del
ENST00000380150.2:n.162_231del
ENST00000380151.3:c.462_531del	ENSP00000369496.3:n.462_531del
ENST00000404796.2:c.348-58326_348-58257del	ENSP00000385916.2:n.348-58326_348-58257de...
ENST00000479692.2:c.35_104del	ENSP00000466887.1:p.Leu12ProfsTer?
ENST00000494262.5:c.35_104del	ENSP00000464952.1:p.Leu12ProfsTer?
ENST00000497750.1:c.35_104del	ENSP00000468510.1:p.Leu12ProfsTer?
ENST00000498124.1:c.188_257del	ENSP00000418915.1:p.Leu63ProfsTer?
ENST00000498628.6:c.35_104del	ENSP00000467857.1:p.Leu12ProfsTer?
ENST00000530628.2:c.231_300del	ENSP00000432664.2:p.Ala78ArgfsTer?
ENST00000578845.2:c.35_104del	ENSP00000467390.1:p.Leu12ProfsTer?
ENST00000579122.1:c.188_257del	ENSP00000464202.1:p.Leu63ProfsTer?
ENST00000579755.1:c.231_300del	ENSP00000462950.1:p.Ala78ArgfsTer?
NM_000077.4:c.188_257del , LRG_11t1:c.188_257del	NP_000068.1:p.Leu63ProfsTer?
NM_001195132.1:c.188_257del	NP_001182061.1:p.Leu63ProfsTer?
NM_058195.3:c.231_300del , LRG_11t2:c.231_300del	NP_478102.2:p.Ala78ArgfsTer?
NM_058197.4:c.462_531del	NP_478104.2:n.462_531del
XM_005251343.1:c.35_104del	XP_005251400.1:p.Leu12ProfsTer?
XM_011517675.1:c.188_257del	XP_011515977.1:p.Leu63ProfsTer?
XM_011517676.1:c.188_257del	XP_011515978.1:p.Leu63ProfsTer?
XM_011517679.1:c.35_104del	XP_011515981.1:p.Leu12ProfsTer?
XR_929159.1:n.589_658del
XR_929161.1:n.378_447del
XR_929162.1:n.378_447del
XR_929163.1:n.327_396del
XR_929164.1:n.110_179del
NM_001363763.1:c.35_104del	NP_001350692.1:p.Leu12ProfsTer?
XM_011517675.2:c.188_257del	XP_011515977.1:p.Leu63ProfsTer?
XM_011517676.2:c.188_257del	XP_011515978.1:p.Leu63ProfsTer?
XR_929159.2:n.518_587del
NM_001363763.2:c.35_104del	NP_001350692.1:p.Leu12ProfsTer?
NM_000077.5:c.188_257del MANE Select	NP_000068.1:p.Leu63ProfsTer?
NM_001195132.2:c.188_257del	NP_001182061.1:p.Leu63ProfsTer?
NM_058195.4:c.231_300del MANE Plus Clinical	NP_478102.2:p.Ala78ArgfsTer?
NM_058197.5:c.*111_*180del	NP_478104.2:n.*111_*180del