Canonical Allele Identifier: CA2609212084
Gene: PCDH15 HGNC NCBI

Linked Data

gnomAD v4: 10-53822418-CAGGAGGAGGAGCAAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822424_53822438del , CM000672.2:g.53822424_53822438del GRCh38
NC_000010.10:g.55582184_55582198del , CM000672.1:g.55582184_55582198del GRCh37
NC_000010.9:g.55252190_55252204del NCBI36
NG_009191.2:g.983859_983873del
NG_009191.3:g.1811750_1811764del

Transcript Alleles

HGVS Amino-acid change
ENST00000613657.6:c.4409+2703_4409+2717del ENSP00000482794.1:n.4409+2703_4409+2717del
ENST00000320301.11:c.5293_5307del MANE Plus Clinical ENSP00000322604.6:p.Leu1765_Pro1769del
ENST00000395445.6:c.4388+4960_4388+4974del ENSP00000378832.2:n.4388+4960_4388+4974del
ENST00000613657.5:c.4409+2703_4409+2717del ENSP00000482794.1:n.4409+2703_4409+2717del
ENST00000642496.1:c.3227-2203_3227-2189del
ENST00000644397.2:c.4368-2203_4368-2189del MANE Select ENSP00000495195.1:n.4368-2203_4368-2189del
ENST00000320301.10:c.5293_5307del ENSP00000322604.6:p.Leu1765_Pro1769del
ENST00000361849.7:c.5299_5313del ENSP00000354950.3:p.Leu1767_Pro1771del
ENST00000373956.7:c.*3248_*3262del ENSP00000363067.4:n.*3248_*3262del
ENST00000373957.7:c.5314_5328del ENSP00000363068.4:p.Leu1772_Pro1776del
ENST00000373965.6:c.4373+2703_4373+2717del ENSP00000363076.3:n.4373+2703_4373+2717del
ENST00000395430.5:c.5284_5298del ENSP00000378818.1:p.Leu1762_Pro1766del
ENST00000395432.6:c.5173_5187del ENSP00000378820.2:p.Leu1725_Pro1729del
ENST00000395433.5:c.5224_5238del ENSP00000378821.1:p.Leu1742_Pro1746del
ENST00000395438.5:c.4371+4959_4371+4973del ENSP00000378826.2:n.4371+4959_4371+4973del
ENST00000395440.5:c.1306-12887_1306-12873del ENSP00000378827.1:n.1306-12887_1306-12873del
ENST00000395442.5:c.1099-12887_1099-12873del ENSP00000378829.1:n.1099-12887_1099-12873del
ENST00000395445.5:c.4388+4960_4388+4974del ENSP00000378832.2:n.4388+4960_4388+4974del
ENST00000395446.5:c.2092-12887_2092-12873del ENSP00000378833.1:n.2092-12887_2092-12873del
ENST00000409834.5:c.3206+2703_3206+2717del ENSP00000386693.1:n.3206+2703_3206+2717del
ENST00000414367.5:c.*447+4960_*447+4974del ENSP00000412531.1:n.*447+4960_*447+4974del
ENST00000414778.5:c.4370+4960_4370+4974del ENSP00000410304.2:n.4370+4960_4370+4974del
ENST00000437009.5:c.5086_5100del ENSP00000412628.2:p.Leu1696_Pro1700del
ENST00000448885.5:c.*3254_*3268del ENSP00000412320.1:n.*3254_*3268del
ENST00000463095.2:n.2312_2326del
ENST00000495484.5:c.462-4420_462-4406del ENSP00000480780.1:n.462-4420_462-4406del
ENST00000612394.4:c.4406+4960_4406+4974del ENSP00000482921.1:n.4406+4960_4406+4974del
ENST00000613657.4:c.4409+2703_4409+2717del ENSP00000482794.1:n.4409+2703_4409+2717del
ENST00000614895.4:c.4385+4960_4385+4974del ENSP00000478512.1:n.4385+4960_4385+4974del
ENST00000616114.4:c.4367+4960_4367+4974del ENSP00000483745.1:n.4367+4960_4367+4974del
ENST00000617051.4:c.5320_5334del ENSP00000484703.1:p.Leu1774_Pro1778del
ENST00000617271.4:c.4373+2703_4373+2717del ENSP00000478076.1:n.4373+2703_4373+2717del
ENST00000618301.4:c.594-4420_594-4406del ENSP00000482780.1:n.594-4420_594-4406del
ENST00000621708.4:c.4388+2703_4388+2717del ENSP00000484454.1:n.4388+2703_4388+2717del
ENST00000622048.4:c.5092_5106del ENSP00000482329.1:p.Leu1698_Pro1702del
NM_001142763.1:c.5314_5328del NP_001136235.1:p.Leu1772_Pro1776del
NM_001142764.1:c.5299_5313del NP_001136236.1:p.Leu1767_Pro1771del
NM_001142765.1:c.5086_5100del NP_001136237.1:p.Leu1696_Pro1700del
NM_001142766.1:c.5284_5298del NP_001136238.1:p.Leu1762_Pro1766del
NM_001142767.1:c.5173_5187del NP_001136239.1:p.Leu1725_Pro1729del
NM_001142768.1:c.5233_5247del NP_001136240.1:p.Leu1745_Pro1749del
NM_001142769.1:c.4409+2703_4409+2717del NP_001136241.1:n.4409+2703_4409+2717del
NM_001142770.1:c.4373+2703_4373+2717del NP_001136242.1:n.4373+2703_4373+2717del
NM_001142771.1:c.4388+2703_4388+2717del NP_001136243.1:n.4388+2703_4388+2717del
NM_001142772.1:c.4373+2703_4373+2717del NP_001136244.1:n.4373+2703_4373+2717del
NM_001142773.1:c.5224_5238del NP_001136245.1:p.Leu1742_Pro1746del
NM_033056.3:c.5293_5307del NP_149045.3:p.Leu1765_Pro1769del
NM_001142769.2:c.4409+2703_4409+2717del NP_001136241.1:n.4409+2703_4409+2717del
NM_001142770.2:c.4373+2703_4373+2717del NP_001136242.1:n.4373+2703_4373+2717del
NM_001354404.1:c.5227_5241del NP_001341333.1:p.Leu1743_Pro1747del
NM_001354411.1:c.4388+4960_4388+4974del NP_001341340.1:n.4388+4960_4388+4974del
NM_001354420.1:c.4367+4960_4367+4974del NP_001341349.1:n.4367+4960_4367+4974del
NM_001354429.1:c.4368-4420_4368-4406del NP_001341358.1:n.4368-4420_4368-4406del
XM_017016573.2:c.4388+2703_4388+2717del XP_016872062.1:n.4388+2703_4388+2717del
XR_001747192.2:n.6306_6320del
XR_001747193.2:n.6297_6311del
NM_001142763.2:c.5314_5328del NP_001136235.1:p.Leu1772_Pro1776del
NM_001142764.2:c.5299_5313del NP_001136236.1:p.Leu1767_Pro1771del
NM_001142765.2:c.5086_5100del NP_001136237.1:p.Leu1696_Pro1700del
NM_001142766.2:c.5284_5298del NP_001136238.1:p.Leu1762_Pro1766del
NM_001142768.2:c.5233_5247del NP_001136240.1:p.Leu1745_Pro1749del
NM_001142769.3:c.4409+2703_4409+2717del NP_001136241.1:n.4409+2703_4409+2717del
NM_001142770.3:c.4373+2703_4373+2717del NP_001136242.1:n.4373+2703_4373+2717del
NM_001142771.2:c.4388+2703_4388+2717del NP_001136243.1:n.4388+2703_4388+2717del
NM_001142772.2:c.4373+2703_4373+2717del NP_001136244.1:n.4373+2703_4373+2717del
NM_001142773.2:c.5224_5238del NP_001136245.1:p.Leu1742_Pro1746del
NM_001354411.2:c.4388+4960_4388+4974del NP_001341340.1:n.4388+4960_4388+4974del
NM_001354420.2:c.4367+4960_4367+4974del NP_001341349.1:n.4367+4960_4367+4974del
NM_001354429.2:c.4368-4420_4368-4406del NP_001341358.1:n.4368-4420_4368-4406del
NM_033056.4:c.5293_5307del MANE Plus Clinical NP_149045.3:p.Leu1765_Pro1769del
NM_001142767.2:c.5173_5187del NP_001136239.1:p.Leu1725_Pro1729del
NM_001354404.2:c.5227_5241del NP_001341333.1:p.Leu1743_Pro1747del
NM_001384140.1:c.4368-2203_4368-2189del MANE Select NP_001371069.1:n.4368-2203_4368-2189del
Search 100 bp 5'
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