Canonical Allele Identifier: CA912970196
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822463_53822469del , CM000672.2:g.53822463_53822469del GRCh38
NC_000010.10:g.55582223_55582229del , CM000672.1:g.55582223_55582229del GRCh37
NC_000010.9:g.55252229_55252235del NCBI36
NG_009191.2:g.983823_983829del
NG_009191.3:g.1811714_1811720del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2667_4409+2673del ENSP00000482794.1:n.4409+2667_4409+2673del
ENST00000320301.11:c.5257_5263del MANE Plus Clinical ENSP00000322604.6:p.Ile1753LeufsTer?
ENST00000395445.6:c.4388+4924_4388+4930del ENSP00000378832.2:n.4388+4924_4388+4930del
ENST00000613657.5:c.4409+2667_4409+2673del ENSP00000482794.1:n.4409+2667_4409+2673del
ENST00000642496.1:c.3227-2239_3227-2233del
ENST00000644397.2:c.4368-2239_4368-2233del MANE Select ENSP00000495195.1:n.4368-2239_4368-2233del
ENST00000320301.10:c.5257_5263del ENSP00000322604.6:p.Ile1753LeufsTer?
ENST00000361849.7:c.5263_5269del ENSP00000354950.3:p.Ile1755LeufsTer?
ENST00000373956.7:c.*3212_*3218del ENSP00000363067.4:n.*3212_*3218del
ENST00000373957.7:c.5278_5284del ENSP00000363068.4:p.Ile1760LeufsTer?
ENST00000373965.6:c.4373+2667_4373+2673del ENSP00000363076.3:n.4373+2667_4373+2673del
ENST00000395430.5:c.5248_5254del ENSP00000378818.1:p.Ile1750LeufsTer?
ENST00000395432.6:c.5137_5143del ENSP00000378820.2:p.Ile1713LeufsTer?
ENST00000395433.5:c.5188_5194del ENSP00000378821.1:p.Ile1730LeufsTer?
ENST00000395438.5:c.4371+4923_4371+4929del ENSP00000378826.2:n.4371+4923_4371+4929del
ENST00000395440.5:c.1306-12923_1306-12917del ENSP00000378827.1:n.1306-12923_1306-12917del
ENST00000395442.5:c.1099-12923_1099-12917del ENSP00000378829.1:n.1099-12923_1099-12917del
ENST00000395445.5:c.4388+4924_4388+4930del ENSP00000378832.2:n.4388+4924_4388+4930del
ENST00000395446.5:c.2092-12923_2092-12917del ENSP00000378833.1:n.2092-12923_2092-12917del
ENST00000409834.5:c.3206+2667_3206+2673del ENSP00000386693.1:n.3206+2667_3206+2673del
ENST00000414367.5:c.*447+4924_*447+4930del ENSP00000412531.1:n.*447+4924_*447+4930del
ENST00000414778.5:c.4370+4924_4370+4930del ENSP00000410304.2:n.4370+4924_4370+4930del
ENST00000437009.5:c.5050_5056del ENSP00000412628.2:p.Ile1684LeufsTer?
ENST00000448885.5:c.*3218_*3224del ENSP00000412320.1:n.*3218_*3224del
ENST00000463095.2:n.2276_2282del
ENST00000495484.5:c.462-4456_462-4450del ENSP00000480780.1:n.462-4456_462-4450del
ENST00000612394.4:c.4406+4924_4406+4930del ENSP00000482921.1:n.4406+4924_4406+4930del
ENST00000613657.4:c.4409+2667_4409+2673del ENSP00000482794.1:n.4409+2667_4409+2673del
ENST00000614895.4:c.4385+4924_4385+4930del ENSP00000478512.1:n.4385+4924_4385+4930del
ENST00000616114.4:c.4367+4924_4367+4930del ENSP00000483745.1:n.4367+4924_4367+4930del
ENST00000617051.4:c.5284_5290del ENSP00000484703.1:p.Ile1762LeufsTer?
ENST00000617271.4:c.4373+2667_4373+2673del ENSP00000478076.1:n.4373+2667_4373+2673del
ENST00000618301.4:c.594-4456_594-4450del ENSP00000482780.1:n.594-4456_594-4450del
ENST00000621708.4:c.4388+2667_4388+2673del ENSP00000484454.1:n.4388+2667_4388+2673del
ENST00000622048.4:c.5056_5062del ENSP00000482329.1:p.Ile1686LeufsTer?
NM_001142763.1:c.5278_5284del NP_001136235.1:p.Ile1760LeufsTer?
NM_001142764.1:c.5263_5269del NP_001136236.1:p.Ile1755LeufsTer?
NM_001142765.1:c.5050_5056del NP_001136237.1:p.Ile1684LeufsTer?
NM_001142766.1:c.5248_5254del NP_001136238.1:p.Ile1750LeufsTer?
NM_001142767.1:c.5137_5143del NP_001136239.1:p.Ile1713LeufsTer?
NM_001142768.1:c.5197_5203del NP_001136240.1:p.Ile1733LeufsTer?
NM_001142769.1:c.4409+2667_4409+2673del NP_001136241.1:n.4409+2667_4409+2673del
NM_001142770.1:c.4373+2667_4373+2673del NP_001136242.1:n.4373+2667_4373+2673del
NM_001142771.1:c.4388+2667_4388+2673del NP_001136243.1:n.4388+2667_4388+2673del
NM_001142772.1:c.4373+2667_4373+2673del NP_001136244.1:n.4373+2667_4373+2673del
NM_001142773.1:c.5188_5194del NP_001136245.1:p.Ile1730LeufsTer?
NM_033056.3:c.5257_5263del NP_149045.3:p.Ile1753LeufsTer?
NM_001142769.2:c.4409+2667_4409+2673del NP_001136241.1:n.4409+2667_4409+2673del
NM_001142770.2:c.4373+2667_4373+2673del NP_001136242.1:n.4373+2667_4373+2673del
NM_001354404.1:c.5191_5197del NP_001341333.1:p.Ile1731LeufsTer?
NM_001354411.1:c.4388+4924_4388+4930del NP_001341340.1:n.4388+4924_4388+4930del
NM_001354420.1:c.4367+4924_4367+4930del NP_001341349.1:n.4367+4924_4367+4930del
NM_001354429.1:c.4368-4456_4368-4450del NP_001341358.1:n.4368-4456_4368-4450del
XM_017016573.2:c.4388+2667_4388+2673del XP_016872062.1:n.4388+2667_4388+2673del
XR_001747192.2:n.6270_6276del
XR_001747193.2:n.6261_6267del
NM_001142763.2:c.5278_5284del NP_001136235.1:p.Ile1760LeufsTer?
NM_001142764.2:c.5263_5269del NP_001136236.1:p.Ile1755LeufsTer?
NM_001142765.2:c.5050_5056del NP_001136237.1:p.Ile1684LeufsTer?
NM_001142766.2:c.5248_5254del NP_001136238.1:p.Ile1750LeufsTer?
NM_001142768.2:c.5197_5203del NP_001136240.1:p.Ile1733LeufsTer?
NM_001142769.3:c.4409+2667_4409+2673del NP_001136241.1:n.4409+2667_4409+2673del
NM_001142770.3:c.4373+2667_4373+2673del NP_001136242.1:n.4373+2667_4373+2673del
NM_001142771.2:c.4388+2667_4388+2673del NP_001136243.1:n.4388+2667_4388+2673del
NM_001142772.2:c.4373+2667_4373+2673del NP_001136244.1:n.4373+2667_4373+2673del
NM_001142773.2:c.5188_5194del NP_001136245.1:p.Ile1730LeufsTer?
NM_001354411.2:c.4388+4924_4388+4930del NP_001341340.1:n.4388+4924_4388+4930del
NM_001354420.2:c.4367+4924_4367+4930del NP_001341349.1:n.4367+4924_4367+4930del
NM_001354429.2:c.4368-4456_4368-4450del NP_001341358.1:n.4368-4456_4368-4450del
NM_033056.4:c.5257_5263del MANE Plus Clinical NP_149045.3:p.Ile1753LeufsTer?
NM_001142767.2:c.5137_5143del NP_001136239.1:p.Ile1713LeufsTer?
NM_001354404.2:c.5191_5197del NP_001341333.1:p.Ile1731LeufsTer?
NM_001384140.1:c.4368-2239_4368-2233del MANE Select NP_001371069.1:n.4368-2239_4368-2233del