Canonical Allele Identifier: CA1910738302
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs2076334060

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822357_53822380del , CM000672.2:g.53822357_53822380del GRCh38
NC_000010.10:g.55582117_55582140del , CM000672.1:g.55582117_55582140del GRCh37
NC_000010.9:g.55252123_55252146del NCBI36
NG_009191.2:g.983919_983942del
NG_009191.3:g.1811810_1811833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2763_4409+2786del ENSP00000482794.1:n.4409+2763_4409+2786del
ENST00000320301.11:c.5353_5376del MANE Plus Clinical ENSP00000322604.6:p.Ser1785_Pro1792del
ENST00000395445.6:c.4388+5020_4388+5043del ENSP00000378832.2:n.4388+5020_4388+5043del
ENST00000613657.5:c.4409+2763_4409+2786del ENSP00000482794.1:n.4409+2763_4409+2786del
ENST00000642496.1:c.3227-2143_3227-2120del
ENST00000644397.2:c.4368-2143_4368-2120del MANE Select ENSP00000495195.1:n.4368-2143_4368-2120del
ENST00000320301.10:c.5353_5376del ENSP00000322604.6:p.Ser1785_Pro1792del
ENST00000361849.7:c.5359_5382del ENSP00000354950.3:p.Ser1787_Pro1794del
ENST00000373956.7:c.*3308_*3331del ENSP00000363067.4:n.*3308_*3331del
ENST00000373957.7:c.5374_5397del ENSP00000363068.4:p.Ser1792_Pro1799del
ENST00000373965.6:c.4373+2763_4373+2786del ENSP00000363076.3:n.4373+2763_4373+2786del
ENST00000395430.5:c.5344_5367del ENSP00000378818.1:p.Ser1782_Pro1789del
ENST00000395432.6:c.5233_5256del ENSP00000378820.2:p.Ser1745_Pro1752del
ENST00000395433.5:c.5284_5307del ENSP00000378821.1:p.Ser1762_Pro1769del
ENST00000395438.5:c.4371+5019_4371+5042del ENSP00000378826.2:n.4371+5019_4371+5042del
ENST00000395440.5:c.1306-12827_1306-12804del ENSP00000378827.1:n.1306-12827_1306-12804del
ENST00000395442.5:c.1099-12827_1099-12804del ENSP00000378829.1:n.1099-12827_1099-12804del
ENST00000395445.5:c.4388+5020_4388+5043del ENSP00000378832.2:n.4388+5020_4388+5043del
ENST00000395446.5:c.2092-12827_2092-12804del ENSP00000378833.1:n.2092-12827_2092-12804del
ENST00000409834.5:c.3206+2763_3206+2786del ENSP00000386693.1:n.3206+2763_3206+2786del
ENST00000414367.5:c.*447+5020_*447+5043del ENSP00000412531.1:n.*447+5020_*447+5043del
ENST00000414778.5:c.4370+5020_4370+5043del ENSP00000410304.2:n.4370+5020_4370+5043del
ENST00000437009.5:c.5146_5169del ENSP00000412628.2:p.Ser1716_Pro1723del
ENST00000448885.5:c.*3314_*3337del ENSP00000412320.1:n.*3314_*3337del
ENST00000463095.2:n.2372_2395del
ENST00000495484.5:c.462-4360_462-4337del ENSP00000480780.1:n.462-4360_462-4337del
ENST00000612394.4:c.4406+5020_4406+5043del ENSP00000482921.1:n.4406+5020_4406+5043del
ENST00000613657.4:c.4409+2763_4409+2786del ENSP00000482794.1:n.4409+2763_4409+2786del
ENST00000614895.4:c.4385+5020_4385+5043del ENSP00000478512.1:n.4385+5020_4385+5043del
ENST00000616114.4:c.4367+5020_4367+5043del ENSP00000483745.1:n.4367+5020_4367+5043del
ENST00000617051.4:c.5380_5403del ENSP00000484703.1:p.Ser1794_Pro1801del
ENST00000617271.4:c.4373+2763_4373+2786del ENSP00000478076.1:n.4373+2763_4373+2786del
ENST00000618301.4:c.594-4360_594-4337del ENSP00000482780.1:n.594-4360_594-4337del
ENST00000621708.4:c.4388+2763_4388+2786del ENSP00000484454.1:n.4388+2763_4388+2786del
ENST00000622048.4:c.5152_5175del ENSP00000482329.1:p.Ser1718_Pro1725del
NM_001142763.1:c.5374_5397del NP_001136235.1:p.Ser1792_Pro1799del
NM_001142764.1:c.5359_5382del NP_001136236.1:p.Ser1787_Pro1794del
NM_001142765.1:c.5146_5169del NP_001136237.1:p.Ser1716_Pro1723del
NM_001142766.1:c.5344_5367del NP_001136238.1:p.Ser1782_Pro1789del
NM_001142767.1:c.5233_5256del NP_001136239.1:p.Ser1745_Pro1752del
NM_001142768.1:c.5293_5316del NP_001136240.1:p.Ser1765_Pro1772del
NM_001142769.1:c.4409+2763_4409+2786del NP_001136241.1:n.4409+2763_4409+2786del
NM_001142770.1:c.4373+2763_4373+2786del NP_001136242.1:n.4373+2763_4373+2786del
NM_001142771.1:c.4388+2763_4388+2786del NP_001136243.1:n.4388+2763_4388+2786del
NM_001142772.1:c.4373+2763_4373+2786del NP_001136244.1:n.4373+2763_4373+2786del
NM_001142773.1:c.5284_5307del NP_001136245.1:p.Ser1762_Pro1769del
NM_033056.3:c.5353_5376del NP_149045.3:p.Ser1785_Pro1792del
NM_001142769.2:c.4409+2763_4409+2786del NP_001136241.1:n.4409+2763_4409+2786del
NM_001142770.2:c.4373+2763_4373+2786del NP_001136242.1:n.4373+2763_4373+2786del
NM_001354404.1:c.5287_5310del NP_001341333.1:p.Ser1763_Pro1770del
NM_001354411.1:c.4388+5020_4388+5043del NP_001341340.1:n.4388+5020_4388+5043del
NM_001354420.1:c.4367+5020_4367+5043del NP_001341349.1:n.4367+5020_4367+5043del
NM_001354429.1:c.4368-4360_4368-4337del NP_001341358.1:n.4368-4360_4368-4337del
XM_017016573.2:c.4388+2763_4388+2786del XP_016872062.1:n.4388+2763_4388+2786del
XR_001747192.2:n.6366_6389del
XR_001747193.2:n.6357_6380del
NM_001142763.2:c.5374_5397del NP_001136235.1:p.Ser1792_Pro1799del
NM_001142764.2:c.5359_5382del NP_001136236.1:p.Ser1787_Pro1794del
NM_001142765.2:c.5146_5169del NP_001136237.1:p.Ser1716_Pro1723del
NM_001142766.2:c.5344_5367del NP_001136238.1:p.Ser1782_Pro1789del
NM_001142768.2:c.5293_5316del NP_001136240.1:p.Ser1765_Pro1772del
NM_001142769.3:c.4409+2763_4409+2786del NP_001136241.1:n.4409+2763_4409+2786del
NM_001142770.3:c.4373+2763_4373+2786del NP_001136242.1:n.4373+2763_4373+2786del
NM_001142771.2:c.4388+2763_4388+2786del NP_001136243.1:n.4388+2763_4388+2786del
NM_001142772.2:c.4373+2763_4373+2786del NP_001136244.1:n.4373+2763_4373+2786del
NM_001142773.2:c.5284_5307del NP_001136245.1:p.Ser1762_Pro1769del
NM_001354411.2:c.4388+5020_4388+5043del NP_001341340.1:n.4388+5020_4388+5043del
NM_001354420.2:c.4367+5020_4367+5043del NP_001341349.1:n.4367+5020_4367+5043del
NM_001354429.2:c.4368-4360_4368-4337del NP_001341358.1:n.4368-4360_4368-4337del
NM_033056.4:c.5353_5376del MANE Plus Clinical NP_149045.3:p.Ser1785_Pro1792del
NM_001142767.2:c.5233_5256del NP_001136239.1:p.Ser1745_Pro1752del
NM_001354404.2:c.5287_5310del NP_001341333.1:p.Ser1763_Pro1770del
NM_001384140.1:c.4368-2143_4368-2120del MANE Select NP_001371069.1:n.4368-2143_4368-2120del