Canonical Allele Identifier: CA2609212080
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822417_53822429del , CM000672.2:g.53822417_53822429del GRCh38
NC_000010.10:g.55582177_55582189del , CM000672.1:g.55582177_55582189del GRCh37
NC_000010.9:g.55252183_55252195del NCBI36
NG_009191.2:g.983864_983876del
NG_009191.3:g.1811755_1811767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2708_4409+2720del ENSP00000482794.1:n.4409+2708_4409+2720del
ENST00000320301.11:c.5298_5310del MANE Plus Clinical ENSP00000322604.6:p.Pro1767PhefsTer?
ENST00000395445.6:c.4388+4965_4388+4977del ENSP00000378832.2:n.4388+4965_4388+4977del
ENST00000613657.5:c.4409+2708_4409+2720del ENSP00000482794.1:n.4409+2708_4409+2720del
ENST00000642496.1:c.3227-2198_3227-2186del
ENST00000644397.2:c.4368-2198_4368-2186del MANE Select ENSP00000495195.1:n.4368-2198_4368-2186del
ENST00000320301.10:c.5298_5310del ENSP00000322604.6:p.Pro1767PhefsTer?
ENST00000361849.7:c.5304_5316del ENSP00000354950.3:p.Pro1769PhefsTer?
ENST00000373956.7:c.*3253_*3265del ENSP00000363067.4:n.*3253_*3265del
ENST00000373957.7:c.5319_5331del ENSP00000363068.4:p.Pro1774PhefsTer?
ENST00000373965.6:c.4373+2708_4373+2720del ENSP00000363076.3:n.4373+2708_4373+2720del
ENST00000395430.5:c.5289_5301del ENSP00000378818.1:p.Pro1764PhefsTer?
ENST00000395432.6:c.5178_5190del ENSP00000378820.2:p.Pro1727PhefsTer?
ENST00000395433.5:c.5229_5241del ENSP00000378821.1:p.Pro1744PhefsTer?
ENST00000395438.5:c.4371+4964_4371+4976del ENSP00000378826.2:n.4371+4964_4371+4976del
ENST00000395440.5:c.1306-12882_1306-12870del ENSP00000378827.1:n.1306-12882_1306-12870del
ENST00000395442.5:c.1099-12882_1099-12870del ENSP00000378829.1:n.1099-12882_1099-12870del
ENST00000395445.5:c.4388+4965_4388+4977del ENSP00000378832.2:n.4388+4965_4388+4977del
ENST00000395446.5:c.2092-12882_2092-12870del ENSP00000378833.1:n.2092-12882_2092-12870del
ENST00000409834.5:c.3206+2708_3206+2720del ENSP00000386693.1:n.3206+2708_3206+2720del
ENST00000414367.5:c.*447+4965_*447+4977del ENSP00000412531.1:n.*447+4965_*447+4977del
ENST00000414778.5:c.4370+4965_4370+4977del ENSP00000410304.2:n.4370+4965_4370+4977del
ENST00000437009.5:c.5091_5103del ENSP00000412628.2:p.Pro1698PhefsTer?
ENST00000448885.5:c.*3259_*3271del ENSP00000412320.1:n.*3259_*3271del
ENST00000463095.2:n.2317_2329del
ENST00000495484.5:c.462-4415_462-4403del ENSP00000480780.1:n.462-4415_462-4403del
ENST00000612394.4:c.4406+4965_4406+4977del ENSP00000482921.1:n.4406+4965_4406+4977del
ENST00000613657.4:c.4409+2708_4409+2720del ENSP00000482794.1:n.4409+2708_4409+2720del
ENST00000614895.4:c.4385+4965_4385+4977del ENSP00000478512.1:n.4385+4965_4385+4977del
ENST00000616114.4:c.4367+4965_4367+4977del ENSP00000483745.1:n.4367+4965_4367+4977del
ENST00000617051.4:c.5325_5337del ENSP00000484703.1:p.Pro1776PhefsTer?
ENST00000617271.4:c.4373+2708_4373+2720del ENSP00000478076.1:n.4373+2708_4373+2720del
ENST00000618301.4:c.594-4415_594-4403del ENSP00000482780.1:n.594-4415_594-4403del
ENST00000621708.4:c.4388+2708_4388+2720del ENSP00000484454.1:n.4388+2708_4388+2720del
ENST00000622048.4:c.5097_5109del ENSP00000482329.1:p.Pro1700PhefsTer?
NM_001142763.1:c.5319_5331del NP_001136235.1:p.Pro1774PhefsTer?
NM_001142764.1:c.5304_5316del NP_001136236.1:p.Pro1769PhefsTer?
NM_001142765.1:c.5091_5103del NP_001136237.1:p.Pro1698PhefsTer?
NM_001142766.1:c.5289_5301del NP_001136238.1:p.Pro1764PhefsTer?
NM_001142767.1:c.5178_5190del NP_001136239.1:p.Pro1727PhefsTer?
NM_001142768.1:c.5238_5250del NP_001136240.1:p.Pro1747PhefsTer?
NM_001142769.1:c.4409+2708_4409+2720del NP_001136241.1:n.4409+2708_4409+2720del
NM_001142770.1:c.4373+2708_4373+2720del NP_001136242.1:n.4373+2708_4373+2720del
NM_001142771.1:c.4388+2708_4388+2720del NP_001136243.1:n.4388+2708_4388+2720del
NM_001142772.1:c.4373+2708_4373+2720del NP_001136244.1:n.4373+2708_4373+2720del
NM_001142773.1:c.5229_5241del NP_001136245.1:p.Pro1744PhefsTer?
NM_033056.3:c.5298_5310del NP_149045.3:p.Pro1767PhefsTer?
NM_001142769.2:c.4409+2708_4409+2720del NP_001136241.1:n.4409+2708_4409+2720del
NM_001142770.2:c.4373+2708_4373+2720del NP_001136242.1:n.4373+2708_4373+2720del
NM_001354404.1:c.5232_5244del NP_001341333.1:p.Pro1745PhefsTer?
NM_001354411.1:c.4388+4965_4388+4977del NP_001341340.1:n.4388+4965_4388+4977del
NM_001354420.1:c.4367+4965_4367+4977del NP_001341349.1:n.4367+4965_4367+4977del
NM_001354429.1:c.4368-4415_4368-4403del NP_001341358.1:n.4368-4415_4368-4403del
XM_017016573.2:c.4388+2708_4388+2720del XP_016872062.1:n.4388+2708_4388+2720del
XR_001747192.2:n.6311_6323del
XR_001747193.2:n.6302_6314del
NM_001142763.2:c.5319_5331del NP_001136235.1:p.Pro1774PhefsTer?
NM_001142764.2:c.5304_5316del NP_001136236.1:p.Pro1769PhefsTer?
NM_001142765.2:c.5091_5103del NP_001136237.1:p.Pro1698PhefsTer?
NM_001142766.2:c.5289_5301del NP_001136238.1:p.Pro1764PhefsTer?
NM_001142768.2:c.5238_5250del NP_001136240.1:p.Pro1747PhefsTer?
NM_001142769.3:c.4409+2708_4409+2720del NP_001136241.1:n.4409+2708_4409+2720del
NM_001142770.3:c.4373+2708_4373+2720del NP_001136242.1:n.4373+2708_4373+2720del
NM_001142771.2:c.4388+2708_4388+2720del NP_001136243.1:n.4388+2708_4388+2720del
NM_001142772.2:c.4373+2708_4373+2720del NP_001136244.1:n.4373+2708_4373+2720del
NM_001142773.2:c.5229_5241del NP_001136245.1:p.Pro1744PhefsTer?
NM_001354411.2:c.4388+4965_4388+4977del NP_001341340.1:n.4388+4965_4388+4977del
NM_001354420.2:c.4367+4965_4367+4977del NP_001341349.1:n.4367+4965_4367+4977del
NM_001354429.2:c.4368-4415_4368-4403del NP_001341358.1:n.4368-4415_4368-4403del
NM_033056.4:c.5298_5310del MANE Plus Clinical NP_149045.3:p.Pro1767PhefsTer?
NM_001142767.2:c.5178_5190del NP_001136239.1:p.Pro1727PhefsTer?
NM_001354404.2:c.5232_5244del NP_001341333.1:p.Pro1745PhefsTer?
NM_001384140.1:c.4368-2198_4368-2186del MANE Select NP_001371069.1:n.4368-2198_4368-2186del