Canonical Allele Identifier: CA5505073
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 968131
ClinVar RCV Id: RCV001243194
dbSNP Id: rs770671117

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822432_53822446del , CM000672.2:g.53822432_53822446del GRCh38
NC_000010.10:g.55582192_55582206del , CM000672.1:g.55582192_55582206del GRCh37
NC_000010.9:g.55252198_55252212del NCBI36
NG_009191.2:g.983853_983867del
NG_009191.3:g.1811744_1811758del

Transcript Alleles

HGVS Amino-acid change
ENST00000613657.6:c.4409+2697_4409+2711del ENSP00000482794.1:n.4409+2697_4409+2711del
ENST00000320301.11:c.5287_5301del MANE Plus Clinical ENSP00000322604.6:p.Ala1763_Pro1767del
ENST00000395445.6:c.4388+4954_4388+4968del ENSP00000378832.2:n.4388+4954_4388+4968del
ENST00000613657.5:c.4409+2697_4409+2711del ENSP00000482794.1:n.4409+2697_4409+2711del
ENST00000642496.1:c.3227-2209_3227-2195del
ENST00000644397.2:c.4368-2209_4368-2195del MANE Select ENSP00000495195.1:n.4368-2209_4368-2195del
ENST00000320301.10:c.5287_5301del ENSP00000322604.6:p.Ala1763_Pro1767del
ENST00000361849.7:c.5293_5307del ENSP00000354950.3:p.Ala1765_Pro1769del
ENST00000373956.7:c.*3242_*3256del ENSP00000363067.4:n.*3242_*3256del
ENST00000373957.7:c.5308_5322del ENSP00000363068.4:p.Ala1770_Pro1774del
ENST00000373965.6:c.4373+2697_4373+2711del ENSP00000363076.3:n.4373+2697_4373+2711del
ENST00000395430.5:c.5278_5292del ENSP00000378818.1:p.Ala1760_Pro1764del
ENST00000395432.6:c.5167_5181del ENSP00000378820.2:p.Ala1723_Pro1727del
ENST00000395433.5:c.5218_5232del ENSP00000378821.1:p.Ala1740_Pro1744del
ENST00000395438.5:c.4371+4953_4371+4967del ENSP00000378826.2:n.4371+4953_4371+4967del
ENST00000395440.5:c.1306-12893_1306-12879del ENSP00000378827.1:n.1306-12893_1306-12879del
ENST00000395442.5:c.1099-12893_1099-12879del ENSP00000378829.1:n.1099-12893_1099-12879del
ENST00000395445.5:c.4388+4954_4388+4968del ENSP00000378832.2:n.4388+4954_4388+4968del
ENST00000395446.5:c.2092-12893_2092-12879del ENSP00000378833.1:n.2092-12893_2092-12879del
ENST00000409834.5:c.3206+2697_3206+2711del ENSP00000386693.1:n.3206+2697_3206+2711del
ENST00000414367.5:c.*447+4954_*447+4968del ENSP00000412531.1:n.*447+4954_*447+4968del
ENST00000414778.5:c.4370+4954_4370+4968del ENSP00000410304.2:n.4370+4954_4370+4968del
ENST00000437009.5:c.5080_5094del ENSP00000412628.2:p.Ala1694_Pro1698del
ENST00000448885.5:c.*3248_*3262del ENSP00000412320.1:n.*3248_*3262del
ENST00000463095.2:n.2306_2320del
ENST00000495484.5:c.462-4426_462-4412del ENSP00000480780.1:n.462-4426_462-4412del
ENST00000612394.4:c.4406+4954_4406+4968del ENSP00000482921.1:n.4406+4954_4406+4968del
ENST00000613657.4:c.4409+2697_4409+2711del ENSP00000482794.1:n.4409+2697_4409+2711del
ENST00000614895.4:c.4385+4954_4385+4968del ENSP00000478512.1:n.4385+4954_4385+4968del
ENST00000616114.4:c.4367+4954_4367+4968del ENSP00000483745.1:n.4367+4954_4367+4968del
ENST00000617051.4:c.5314_5328del ENSP00000484703.1:p.Ala1772_Pro1776del
ENST00000617271.4:c.4373+2697_4373+2711del ENSP00000478076.1:n.4373+2697_4373+2711del
ENST00000618301.4:c.594-4426_594-4412del ENSP00000482780.1:n.594-4426_594-4412del
ENST00000621708.4:c.4388+2697_4388+2711del ENSP00000484454.1:n.4388+2697_4388+2711del
ENST00000622048.4:c.5086_5100del ENSP00000482329.1:p.Ala1696_Pro1700del
NM_001142763.1:c.5308_5322del NP_001136235.1:p.Ala1770_Pro1774del
NM_001142764.1:c.5293_5307del NP_001136236.1:p.Ala1765_Pro1769del
NM_001142765.1:c.5080_5094del NP_001136237.1:p.Ala1694_Pro1698del
NM_001142766.1:c.5278_5292del NP_001136238.1:p.Ala1760_Pro1764del
NM_001142767.1:c.5167_5181del NP_001136239.1:p.Ala1723_Pro1727del
NM_001142768.1:c.5227_5241del NP_001136240.1:p.Ala1743_Pro1747del
NM_001142769.1:c.4409+2697_4409+2711del NP_001136241.1:n.4409+2697_4409+2711del
NM_001142770.1:c.4373+2697_4373+2711del NP_001136242.1:n.4373+2697_4373+2711del
NM_001142771.1:c.4388+2697_4388+2711del NP_001136243.1:n.4388+2697_4388+2711del
NM_001142772.1:c.4373+2697_4373+2711del NP_001136244.1:n.4373+2697_4373+2711del
NM_001142773.1:c.5218_5232del NP_001136245.1:p.Ala1740_Pro1744del
NM_033056.3:c.5287_5301del NP_149045.3:p.Ala1763_Pro1767del
NM_001142769.2:c.4409+2697_4409+2711del NP_001136241.1:n.4409+2697_4409+2711del
NM_001142770.2:c.4373+2697_4373+2711del NP_001136242.1:n.4373+2697_4373+2711del
NM_001354404.1:c.5221_5235del NP_001341333.1:p.Ala1741_Pro1745del
NM_001354411.1:c.4388+4954_4388+4968del NP_001341340.1:n.4388+4954_4388+4968del
NM_001354420.1:c.4367+4954_4367+4968del NP_001341349.1:n.4367+4954_4367+4968del
NM_001354429.1:c.4368-4426_4368-4412del NP_001341358.1:n.4368-4426_4368-4412del
XM_017016573.2:c.4388+2697_4388+2711del XP_016872062.1:n.4388+2697_4388+2711del
XR_001747192.2:n.6300_6314del
XR_001747193.2:n.6291_6305del
NM_001142763.2:c.5308_5322del NP_001136235.1:p.Ala1770_Pro1774del
NM_001142764.2:c.5293_5307del NP_001136236.1:p.Ala1765_Pro1769del
NM_001142765.2:c.5080_5094del NP_001136237.1:p.Ala1694_Pro1698del
NM_001142766.2:c.5278_5292del NP_001136238.1:p.Ala1760_Pro1764del
NM_001142768.2:c.5227_5241del NP_001136240.1:p.Ala1743_Pro1747del
NM_001142769.3:c.4409+2697_4409+2711del NP_001136241.1:n.4409+2697_4409+2711del
NM_001142770.3:c.4373+2697_4373+2711del NP_001136242.1:n.4373+2697_4373+2711del
NM_001142771.2:c.4388+2697_4388+2711del NP_001136243.1:n.4388+2697_4388+2711del
NM_001142772.2:c.4373+2697_4373+2711del NP_001136244.1:n.4373+2697_4373+2711del
NM_001142773.2:c.5218_5232del NP_001136245.1:p.Ala1740_Pro1744del
NM_001354411.2:c.4388+4954_4388+4968del NP_001341340.1:n.4388+4954_4388+4968del
NM_001354420.2:c.4367+4954_4367+4968del NP_001341349.1:n.4367+4954_4367+4968del
NM_001354429.2:c.4368-4426_4368-4412del NP_001341358.1:n.4368-4426_4368-4412del
NM_033056.4:c.5287_5301del MANE Plus Clinical NP_149045.3:p.Ala1763_Pro1767del
NM_001142767.2:c.5167_5181del NP_001136239.1:p.Ala1723_Pro1727del
NM_001354404.2:c.5221_5235del NP_001341333.1:p.Ala1741_Pro1745del
NM_001384140.1:c.4368-2209_4368-2195del MANE Select NP_001371069.1:n.4368-2209_4368-2195del