Canonical Allele Identifier: CA912970183
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822382_53822383del , CM000672.2:g.53822382_53822383del GRCh38
NC_000010.10:g.55582142_55582143del , CM000672.1:g.55582142_55582143del GRCh37
NC_000010.9:g.55252148_55252149del NCBI36
NG_009191.2:g.983912_983913del
NG_009191.3:g.1811803_1811804del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2756_4409+2757del ENSP00000482794.1:n.4409+2756_4409+2757del
ENST00000320301.11:c.5346_5347del MANE Plus Clinical ENSP00000322604.6:p.Pro1783SerfsTer?
ENST00000395445.6:c.4388+5013_4388+5014del ENSP00000378832.2:n.4388+5013_4388+5014del
ENST00000613657.5:c.4409+2756_4409+2757del ENSP00000482794.1:n.4409+2756_4409+2757del
ENST00000642496.1:c.3227-2150_3227-2149del
ENST00000644397.2:c.4368-2150_4368-2149del MANE Select ENSP00000495195.1:n.4368-2150_4368-2149del
ENST00000320301.10:c.5346_5347del ENSP00000322604.6:p.Pro1783SerfsTer?
ENST00000361849.7:c.5352_5353del ENSP00000354950.3:p.Pro1785SerfsTer?
ENST00000373956.7:c.*3301_*3302del ENSP00000363067.4:n.*3301_*3302del
ENST00000373957.7:c.5367_5368del ENSP00000363068.4:p.Pro1790SerfsTer?
ENST00000373965.6:c.4373+2756_4373+2757del ENSP00000363076.3:n.4373+2756_4373+2757del
ENST00000395430.5:c.5337_5338del ENSP00000378818.1:p.Pro1780SerfsTer?
ENST00000395432.6:c.5226_5227del ENSP00000378820.2:p.Pro1743SerfsTer?
ENST00000395433.5:c.5277_5278del ENSP00000378821.1:p.Pro1760SerfsTer?
ENST00000395438.5:c.4371+5012_4371+5013del ENSP00000378826.2:n.4371+5012_4371+5013del
ENST00000395440.5:c.1306-12834_1306-12833del ENSP00000378827.1:n.1306-12834_1306-12833del
ENST00000395442.5:c.1099-12834_1099-12833del ENSP00000378829.1:n.1099-12834_1099-12833del
ENST00000395445.5:c.4388+5013_4388+5014del ENSP00000378832.2:n.4388+5013_4388+5014del
ENST00000395446.5:c.2092-12834_2092-12833del ENSP00000378833.1:n.2092-12834_2092-12833del
ENST00000409834.5:c.3206+2756_3206+2757del ENSP00000386693.1:n.3206+2756_3206+2757del
ENST00000414367.5:c.*447+5013_*447+5014del ENSP00000412531.1:n.*447+5013_*447+5014del
ENST00000414778.5:c.4370+5013_4370+5014del ENSP00000410304.2:n.4370+5013_4370+5014del
ENST00000437009.5:c.5139_5140del ENSP00000412628.2:p.Pro1714SerfsTer?
ENST00000448885.5:c.*3307_*3308del ENSP00000412320.1:n.*3307_*3308del
ENST00000463095.2:n.2365_2366del
ENST00000495484.5:c.462-4367_462-4366del ENSP00000480780.1:n.462-4367_462-4366del
ENST00000612394.4:c.4406+5013_4406+5014del ENSP00000482921.1:n.4406+5013_4406+5014del
ENST00000613657.4:c.4409+2756_4409+2757del ENSP00000482794.1:n.4409+2756_4409+2757del
ENST00000614895.4:c.4385+5013_4385+5014del ENSP00000478512.1:n.4385+5013_4385+5014del
ENST00000616114.4:c.4367+5013_4367+5014del ENSP00000483745.1:n.4367+5013_4367+5014del
ENST00000617051.4:c.5373_5374del ENSP00000484703.1:p.Pro1792SerfsTer?
ENST00000617271.4:c.4373+2756_4373+2757del ENSP00000478076.1:n.4373+2756_4373+2757del
ENST00000618301.4:c.594-4367_594-4366del ENSP00000482780.1:n.594-4367_594-4366del
ENST00000621708.4:c.4388+2756_4388+2757del ENSP00000484454.1:n.4388+2756_4388+2757del
ENST00000622048.4:c.5145_5146del ENSP00000482329.1:p.Pro1716SerfsTer?
NM_001142763.1:c.5367_5368del NP_001136235.1:p.Pro1790SerfsTer?
NM_001142764.1:c.5352_5353del NP_001136236.1:p.Pro1785SerfsTer?
NM_001142765.1:c.5139_5140del NP_001136237.1:p.Pro1714SerfsTer?
NM_001142766.1:c.5337_5338del NP_001136238.1:p.Pro1780SerfsTer?
NM_001142767.1:c.5226_5227del NP_001136239.1:p.Pro1743SerfsTer?
NM_001142768.1:c.5286_5287del NP_001136240.1:p.Pro1763SerfsTer?
NM_001142769.1:c.4409+2756_4409+2757del NP_001136241.1:n.4409+2756_4409+2757del
NM_001142770.1:c.4373+2756_4373+2757del NP_001136242.1:n.4373+2756_4373+2757del
NM_001142771.1:c.4388+2756_4388+2757del NP_001136243.1:n.4388+2756_4388+2757del
NM_001142772.1:c.4373+2756_4373+2757del NP_001136244.1:n.4373+2756_4373+2757del
NM_001142773.1:c.5277_5278del NP_001136245.1:p.Pro1760SerfsTer?
NM_033056.3:c.5346_5347del NP_149045.3:p.Pro1783SerfsTer?
NM_001142769.2:c.4409+2756_4409+2757del NP_001136241.1:n.4409+2756_4409+2757del
NM_001142770.2:c.4373+2756_4373+2757del NP_001136242.1:n.4373+2756_4373+2757del
NM_001354404.1:c.5280_5281del NP_001341333.1:p.Pro1761SerfsTer?
NM_001354411.1:c.4388+5013_4388+5014del NP_001341340.1:n.4388+5013_4388+5014del
NM_001354420.1:c.4367+5013_4367+5014del NP_001341349.1:n.4367+5013_4367+5014del
NM_001354429.1:c.4368-4367_4368-4366del NP_001341358.1:n.4368-4367_4368-4366del
XM_017016573.2:c.4388+2756_4388+2757del XP_016872062.1:n.4388+2756_4388+2757del
XR_001747192.2:n.6359_6360del
XR_001747193.2:n.6350_6351del
NM_001142763.2:c.5367_5368del NP_001136235.1:p.Pro1790SerfsTer?
NM_001142764.2:c.5352_5353del NP_001136236.1:p.Pro1785SerfsTer?
NM_001142765.2:c.5139_5140del NP_001136237.1:p.Pro1714SerfsTer?
NM_001142766.2:c.5337_5338del NP_001136238.1:p.Pro1780SerfsTer?
NM_001142768.2:c.5286_5287del NP_001136240.1:p.Pro1763SerfsTer?
NM_001142769.3:c.4409+2756_4409+2757del NP_001136241.1:n.4409+2756_4409+2757del
NM_001142770.3:c.4373+2756_4373+2757del NP_001136242.1:n.4373+2756_4373+2757del
NM_001142771.2:c.4388+2756_4388+2757del NP_001136243.1:n.4388+2756_4388+2757del
NM_001142772.2:c.4373+2756_4373+2757del NP_001136244.1:n.4373+2756_4373+2757del
NM_001142773.2:c.5277_5278del NP_001136245.1:p.Pro1760SerfsTer?
NM_001354411.2:c.4388+5013_4388+5014del NP_001341340.1:n.4388+5013_4388+5014del
NM_001354420.2:c.4367+5013_4367+5014del NP_001341349.1:n.4367+5013_4367+5014del
NM_001354429.2:c.4368-4367_4368-4366del NP_001341358.1:n.4368-4367_4368-4366del
NM_033056.4:c.5346_5347del MANE Plus Clinical NP_149045.3:p.Pro1783SerfsTer?
NM_001142767.2:c.5226_5227del NP_001136239.1:p.Pro1743SerfsTer?
NM_001354404.2:c.5280_5281del NP_001341333.1:p.Pro1761SerfsTer?
NM_001384140.1:c.4368-2150_4368-2149del MANE Select NP_001371069.1:n.4368-2150_4368-2149del