Canonical Allele Identifier: CA645552542
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM12521

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971168_21971181del , CM000671.2:g.21971168_21971181del GRCh38
NC_000009.11:g.21971167_21971180del , CM000671.1:g.21971167_21971180del GRCh37
NC_000009.10:g.21961167_21961180del NCBI36
NG_007485.1:g.28313_28326del , LRG_11:g.28313_28326del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.180_193del MANE Select ENSP00000307101.5:p.Glu61ProfsTer?
ENST00000404796.3:c.348-58265_348-58252del ENSP00000385916.2:n.348-58265_348-58252del
ENST00000579755.2:c.223_236del MANE Plus Clinical ENSP00000462950.1:p.Gly75SerfsTer?
ENST00000304494.9:c.180_193del ENSP00000307101.5:p.Glu61ProfsTer?
ENST00000361570.4:c.223_236del ENSP00000355153.4:p.Gly75SerfsTer?
ENST00000380150.2:n.154_167del
ENST00000380151.3:c.454_467del ENSP00000369496.3:n.454_467del
ENST00000404796.2:c.348-58265_348-58252del ENSP00000385916.2:n.348-58265_348-58252del
ENST00000479692.2:c.27_40del ENSP00000466887.1:p.Glu10ProfsTer?
ENST00000494262.5:c.27_40del ENSP00000464952.1:p.Glu10ProfsTer?
ENST00000497750.1:c.27_40del ENSP00000468510.1:p.Glu10ProfsTer?
ENST00000498124.1:c.180_193del ENSP00000418915.1:p.Glu61ProfsTer?
ENST00000498628.6:c.27_40del ENSP00000467857.1:p.Glu10ProfsTer?
ENST00000530628.2:c.223_236del ENSP00000432664.2:p.Gly75SerfsTer?
ENST00000578845.2:c.27_40del ENSP00000467390.1:p.Glu10ProfsTer?
ENST00000579122.1:c.180_193del ENSP00000464202.1:p.Glu61ProfsTer?
ENST00000579755.1:c.223_236del ENSP00000462950.1:p.Gly75SerfsTer?
NM_000077.4:c.180_193del , LRG_11t1:c.180_193del NP_000068.1:p.Glu61ProfsTer?
NM_001195132.1:c.180_193del NP_001182061.1:p.Glu61ProfsTer?
NM_058195.3:c.223_236del , LRG_11t2:c.223_236del NP_478102.2:p.Gly75SerfsTer?
NM_058197.4:c.454_467del NP_478104.2:n.454_467del
XM_005251343.1:c.27_40del XP_005251400.1:p.Glu10ProfsTer?
XM_011517675.1:c.180_193del XP_011515977.1:p.Glu61ProfsTer?
XM_011517676.1:c.180_193del XP_011515978.1:p.Glu61ProfsTer?
XM_011517679.1:c.27_40del XP_011515981.1:p.Glu10ProfsTer?
XR_929159.1:n.581_594del
XR_929161.1:n.370_383del
XR_929162.1:n.370_383del
XR_929163.1:n.319_332del
XR_929164.1:n.102_115del
NM_001363763.1:c.27_40del NP_001350692.1:p.Glu10ProfsTer?
XM_011517675.2:c.180_193del XP_011515977.1:p.Glu61ProfsTer?
XM_011517676.2:c.180_193del XP_011515978.1:p.Glu61ProfsTer?
XR_929159.2:n.510_523del
NM_001363763.2:c.27_40del NP_001350692.1:p.Glu10ProfsTer?
NM_000077.5:c.180_193del MANE Select NP_000068.1:p.Glu61ProfsTer?
NM_001195132.2:c.180_193del NP_001182061.1:p.Glu61ProfsTer?
NM_058195.4:c.223_236del MANE Plus Clinical NP_478102.2:p.Gly75SerfsTer?
NM_058197.5:c.*103_*116del NP_478104.2:n.*103_*116del