Canonical Allele Identifier: CA2788035310
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822311_53822316del , CM000672.2:g.53822311_53822316del GRCh38
NC_000010.10:g.55582071_55582076del , CM000672.1:g.55582071_55582076del GRCh37
NC_000010.9:g.55252077_55252082del NCBI36
NG_009191.2:g.983976_983981del
NG_009191.3:g.1811867_1811872del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2820_4409+2825del ENSP00000482794.1:n.4409+2820_4409+2825del
ENST00000320301.11:c.5410_5415del MANE Plus Clinical ENSP00000322604.6:p.Gly1804_Pro1805del
ENST00000395445.6:c.4388+5077_4388+5082del ENSP00000378832.2:n.4388+5077_4388+5082del
ENST00000613657.5:c.4409+2820_4409+2825del ENSP00000482794.1:n.4409+2820_4409+2825del
ENST00000642496.1:c.3227-2086_3227-2081del
ENST00000644397.2:c.4368-2086_4368-2081del MANE Select ENSP00000495195.1:n.4368-2086_4368-2081del
ENST00000320301.10:c.5410_5415del ENSP00000322604.6:p.Gly1804_Pro1805del
ENST00000361849.7:c.5416_5421del ENSP00000354950.3:p.Gly1806_Pro1807del
ENST00000373956.7:c.*3365_*3370del ENSP00000363067.4:n.*3365_*3370del
ENST00000373957.7:c.5431_5436del ENSP00000363068.4:p.Gly1811_Pro1812del
ENST00000373965.6:c.4373+2820_4373+2825del ENSP00000363076.3:n.4373+2820_4373+2825del
ENST00000395430.5:c.5401_5406del ENSP00000378818.1:p.Gly1801_Pro1802del
ENST00000395432.6:c.5290_5295del ENSP00000378820.2:p.Gly1764_Pro1765del
ENST00000395433.5:c.5341_5346del ENSP00000378821.1:p.Gly1781_Pro1782del
ENST00000395438.5:c.4371+5076_4371+5081del ENSP00000378826.2:n.4371+5076_4371+5081del
ENST00000395440.5:c.1306-12770_1306-12765del ENSP00000378827.1:n.1306-12770_1306-12765del
ENST00000395442.5:c.1099-12770_1099-12765del ENSP00000378829.1:n.1099-12770_1099-12765del
ENST00000395445.5:c.4388+5077_4388+5082del ENSP00000378832.2:n.4388+5077_4388+5082del
ENST00000395446.5:c.2092-12770_2092-12765del ENSP00000378833.1:n.2092-12770_2092-12765del
ENST00000409834.5:c.3206+2820_3206+2825del ENSP00000386693.1:n.3206+2820_3206+2825del
ENST00000414367.5:c.*447+5077_*447+5082del ENSP00000412531.1:n.*447+5077_*447+5082del
ENST00000414778.5:c.4370+5077_4370+5082del ENSP00000410304.2:n.4370+5077_4370+5082del
ENST00000437009.5:c.5203_5208del ENSP00000412628.2:p.Gly1735_Pro1736del
ENST00000448885.5:c.*3371_*3376del ENSP00000412320.1:n.*3371_*3376del
ENST00000463095.2:n.2429_2434del
ENST00000495484.5:c.462-4303_462-4298del ENSP00000480780.1:n.462-4303_462-4298del
ENST00000612394.4:c.4406+5077_4406+5082del ENSP00000482921.1:n.4406+5077_4406+5082del
ENST00000613657.4:c.4409+2820_4409+2825del ENSP00000482794.1:n.4409+2820_4409+2825del
ENST00000614895.4:c.4385+5077_4385+5082del ENSP00000478512.1:n.4385+5077_4385+5082del
ENST00000616114.4:c.4367+5077_4367+5082del ENSP00000483745.1:n.4367+5077_4367+5082del
ENST00000617051.4:c.5437_5442del ENSP00000484703.1:p.Gly1813_Pro1814del
ENST00000617271.4:c.4373+2820_4373+2825del ENSP00000478076.1:n.4373+2820_4373+2825del
ENST00000618301.4:c.594-4303_594-4298del ENSP00000482780.1:n.594-4303_594-4298del
ENST00000621708.4:c.4388+2820_4388+2825del ENSP00000484454.1:n.4388+2820_4388+2825del
ENST00000622048.4:c.5209_5214del ENSP00000482329.1:p.Gly1737_Pro1738del
NM_001142763.1:c.5431_5436del NP_001136235.1:p.Gly1811_Pro1812del
NM_001142764.1:c.5416_5421del NP_001136236.1:p.Gly1806_Pro1807del
NM_001142765.1:c.5203_5208del NP_001136237.1:p.Gly1735_Pro1736del
NM_001142766.1:c.5401_5406del NP_001136238.1:p.Gly1801_Pro1802del
NM_001142767.1:c.5290_5295del NP_001136239.1:p.Gly1764_Pro1765del
NM_001142768.1:c.5350_5355del NP_001136240.1:p.Gly1784_Pro1785del
NM_001142769.1:c.4409+2820_4409+2825del NP_001136241.1:n.4409+2820_4409+2825del
NM_001142770.1:c.4373+2820_4373+2825del NP_001136242.1:n.4373+2820_4373+2825del
NM_001142771.1:c.4388+2820_4388+2825del NP_001136243.1:n.4388+2820_4388+2825del
NM_001142772.1:c.4373+2820_4373+2825del NP_001136244.1:n.4373+2820_4373+2825del
NM_001142773.1:c.5341_5346del NP_001136245.1:p.Gly1781_Pro1782del
NM_033056.3:c.5410_5415del NP_149045.3:p.Gly1804_Pro1805del
NM_001142769.2:c.4409+2820_4409+2825del NP_001136241.1:n.4409+2820_4409+2825del
NM_001142770.2:c.4373+2820_4373+2825del NP_001136242.1:n.4373+2820_4373+2825del
NM_001354404.1:c.5344_5349del NP_001341333.1:p.Gly1782_Pro1783del
NM_001354411.1:c.4388+5077_4388+5082del NP_001341340.1:n.4388+5077_4388+5082del
NM_001354420.1:c.4367+5077_4367+5082del NP_001341349.1:n.4367+5077_4367+5082del
NM_001354429.1:c.4368-4303_4368-4298del NP_001341358.1:n.4368-4303_4368-4298del
XM_017016573.2:c.4388+2820_4388+2825del XP_016872062.1:n.4388+2820_4388+2825del
XR_001747192.2:n.6423_6428del
XR_001747193.2:n.6414_6419del
NM_001142763.2:c.5431_5436del NP_001136235.1:p.Gly1811_Pro1812del
NM_001142764.2:c.5416_5421del NP_001136236.1:p.Gly1806_Pro1807del
NM_001142765.2:c.5203_5208del NP_001136237.1:p.Gly1735_Pro1736del
NM_001142766.2:c.5401_5406del NP_001136238.1:p.Gly1801_Pro1802del
NM_001142768.2:c.5350_5355del NP_001136240.1:p.Gly1784_Pro1785del
NM_001142769.3:c.4409+2820_4409+2825del NP_001136241.1:n.4409+2820_4409+2825del
NM_001142770.3:c.4373+2820_4373+2825del NP_001136242.1:n.4373+2820_4373+2825del
NM_001142771.2:c.4388+2820_4388+2825del NP_001136243.1:n.4388+2820_4388+2825del
NM_001142772.2:c.4373+2820_4373+2825del NP_001136244.1:n.4373+2820_4373+2825del
NM_001142773.2:c.5341_5346del NP_001136245.1:p.Gly1781_Pro1782del
NM_001354411.2:c.4388+5077_4388+5082del NP_001341340.1:n.4388+5077_4388+5082del
NM_001354420.2:c.4367+5077_4367+5082del NP_001341349.1:n.4367+5077_4367+5082del
NM_001354429.2:c.4368-4303_4368-4298del NP_001341358.1:n.4368-4303_4368-4298del
NM_033056.4:c.5410_5415del MANE Plus Clinical NP_149045.3:p.Gly1804_Pro1805del
NM_001142767.2:c.5290_5295del NP_001136239.1:p.Gly1764_Pro1765del
NM_001354404.2:c.5344_5349del NP_001341333.1:p.Gly1782_Pro1783del
NM_001384140.1:c.4368-2086_4368-2081del MANE Select NP_001371069.1:n.4368-2086_4368-2081del