Canonical Allele Identifier: CA2609212072
Gene: PCDH15 HGNC NCBI

Linked Data

gnomAD v4: 10-53822347-AGGAGGAGGAAGAGGAAGAGGGATAGAAGGAGGAGAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822357_53822392del , CM000672.2:g.53822357_53822392del GRCh38
NC_000010.10:g.55582117_55582152del , CM000672.1:g.55582117_55582152del GRCh37
NC_000010.9:g.55252123_55252158del NCBI36
NG_009191.2:g.983909_983944del
NG_009191.3:g.1811800_1811835del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2753_4409+2788del ENSP00000482794.1:n.4409+2753_4409+2788del
ENST00000320301.11:c.5343_5378del MANE Plus Clinical ENSP00000322604.6:p.Ser1782_Pro1793del
ENST00000395445.6:c.4388+5010_4388+5045del ENSP00000378832.2:n.4388+5010_4388+5045del
ENST00000613657.5:c.4409+2753_4409+2788del ENSP00000482794.1:n.4409+2753_4409+2788del
ENST00000642496.1:c.3227-2153_3227-2118del
ENST00000644397.2:c.4368-2153_4368-2118del MANE Select ENSP00000495195.1:n.4368-2153_4368-2118del
ENST00000320301.10:c.5343_5378del ENSP00000322604.6:p.Ser1782_Pro1793del
ENST00000361849.7:c.5349_5384del ENSP00000354950.3:p.Ser1784_Pro1795del
ENST00000373956.7:c.*3298_*3333del ENSP00000363067.4:n.*3298_*3333del
ENST00000373957.7:c.5364_5399del ENSP00000363068.4:p.Ser1789_Pro1800del
ENST00000373965.6:c.4373+2753_4373+2788del ENSP00000363076.3:n.4373+2753_4373+2788del
ENST00000395430.5:c.5334_5369del ENSP00000378818.1:p.Ser1779_Pro1790del
ENST00000395432.6:c.5223_5258del ENSP00000378820.2:p.Ser1742_Pro1753del
ENST00000395433.5:c.5274_5309del ENSP00000378821.1:p.Ser1759_Pro1770del
ENST00000395438.5:c.4371+5009_4371+5044del ENSP00000378826.2:n.4371+5009_4371+5044del
ENST00000395440.5:c.1306-12837_1306-12802del ENSP00000378827.1:n.1306-12837_1306-12802del
ENST00000395442.5:c.1099-12837_1099-12802del ENSP00000378829.1:n.1099-12837_1099-12802del
ENST00000395445.5:c.4388+5010_4388+5045del ENSP00000378832.2:n.4388+5010_4388+5045del
ENST00000395446.5:c.2092-12837_2092-12802del ENSP00000378833.1:n.2092-12837_2092-12802del
ENST00000409834.5:c.3206+2753_3206+2788del ENSP00000386693.1:n.3206+2753_3206+2788del
ENST00000414367.5:c.*447+5010_*447+5045del ENSP00000412531.1:n.*447+5010_*447+5045del
ENST00000414778.5:c.4370+5010_4370+5045del ENSP00000410304.2:n.4370+5010_4370+5045del
ENST00000437009.5:c.5136_5171del ENSP00000412628.2:p.Ser1713_Pro1724del
ENST00000448885.5:c.*3304_*3339del ENSP00000412320.1:n.*3304_*3339del
ENST00000463095.2:n.2362_2397del
ENST00000495484.5:c.462-4370_462-4335del ENSP00000480780.1:n.462-4370_462-4335del
ENST00000612394.4:c.4406+5010_4406+5045del ENSP00000482921.1:n.4406+5010_4406+5045del
ENST00000613657.4:c.4409+2753_4409+2788del ENSP00000482794.1:n.4409+2753_4409+2788del
ENST00000614895.4:c.4385+5010_4385+5045del ENSP00000478512.1:n.4385+5010_4385+5045del
ENST00000616114.4:c.4367+5010_4367+5045del ENSP00000483745.1:n.4367+5010_4367+5045del
ENST00000617051.4:c.5370_5405del ENSP00000484703.1:p.Ser1791_Pro1802del
ENST00000617271.4:c.4373+2753_4373+2788del ENSP00000478076.1:n.4373+2753_4373+2788del
ENST00000618301.4:c.594-4370_594-4335del ENSP00000482780.1:n.594-4370_594-4335del
ENST00000621708.4:c.4388+2753_4388+2788del ENSP00000484454.1:n.4388+2753_4388+2788del
ENST00000622048.4:c.5142_5177del ENSP00000482329.1:p.Ser1715_Pro1726del
NM_001142763.1:c.5364_5399del NP_001136235.1:p.Ser1789_Pro1800del
NM_001142764.1:c.5349_5384del NP_001136236.1:p.Ser1784_Pro1795del
NM_001142765.1:c.5136_5171del NP_001136237.1:p.Ser1713_Pro1724del
NM_001142766.1:c.5334_5369del NP_001136238.1:p.Ser1779_Pro1790del
NM_001142767.1:c.5223_5258del NP_001136239.1:p.Ser1742_Pro1753del
NM_001142768.1:c.5283_5318del NP_001136240.1:p.Ser1762_Pro1773del
NM_001142769.1:c.4409+2753_4409+2788del NP_001136241.1:n.4409+2753_4409+2788del
NM_001142770.1:c.4373+2753_4373+2788del NP_001136242.1:n.4373+2753_4373+2788del
NM_001142771.1:c.4388+2753_4388+2788del NP_001136243.1:n.4388+2753_4388+2788del
NM_001142772.1:c.4373+2753_4373+2788del NP_001136244.1:n.4373+2753_4373+2788del
NM_001142773.1:c.5274_5309del NP_001136245.1:p.Ser1759_Pro1770del
NM_033056.3:c.5343_5378del NP_149045.3:p.Ser1782_Pro1793del
NM_001142769.2:c.4409+2753_4409+2788del NP_001136241.1:n.4409+2753_4409+2788del
NM_001142770.2:c.4373+2753_4373+2788del NP_001136242.1:n.4373+2753_4373+2788del
NM_001354404.1:c.5277_5312del NP_001341333.1:p.Ser1760_Pro1771del
NM_001354411.1:c.4388+5010_4388+5045del NP_001341340.1:n.4388+5010_4388+5045del
NM_001354420.1:c.4367+5010_4367+5045del NP_001341349.1:n.4367+5010_4367+5045del
NM_001354429.1:c.4368-4370_4368-4335del NP_001341358.1:n.4368-4370_4368-4335del
XM_017016573.2:c.4388+2753_4388+2788del XP_016872062.1:n.4388+2753_4388+2788del
XR_001747192.2:n.6356_6391del
XR_001747193.2:n.6347_6382del
NM_001142763.2:c.5364_5399del NP_001136235.1:p.Ser1789_Pro1800del
NM_001142764.2:c.5349_5384del NP_001136236.1:p.Ser1784_Pro1795del
NM_001142765.2:c.5136_5171del NP_001136237.1:p.Ser1713_Pro1724del
NM_001142766.2:c.5334_5369del NP_001136238.1:p.Ser1779_Pro1790del
NM_001142768.2:c.5283_5318del NP_001136240.1:p.Ser1762_Pro1773del
NM_001142769.3:c.4409+2753_4409+2788del NP_001136241.1:n.4409+2753_4409+2788del
NM_001142770.3:c.4373+2753_4373+2788del NP_001136242.1:n.4373+2753_4373+2788del
NM_001142771.2:c.4388+2753_4388+2788del NP_001136243.1:n.4388+2753_4388+2788del
NM_001142772.2:c.4373+2753_4373+2788del NP_001136244.1:n.4373+2753_4373+2788del
NM_001142773.2:c.5274_5309del NP_001136245.1:p.Ser1759_Pro1770del
NM_001354411.2:c.4388+5010_4388+5045del NP_001341340.1:n.4388+5010_4388+5045del
NM_001354420.2:c.4367+5010_4367+5045del NP_001341349.1:n.4367+5010_4367+5045del
NM_001354429.2:c.4368-4370_4368-4335del NP_001341358.1:n.4368-4370_4368-4335del
NM_033056.4:c.5343_5378del MANE Plus Clinical NP_149045.3:p.Ser1782_Pro1793del
NM_001142767.2:c.5223_5258del NP_001136239.1:p.Ser1742_Pro1753del
NM_001354404.2:c.5277_5312del NP_001341333.1:p.Ser1760_Pro1771del
NM_001384140.1:c.4368-2153_4368-2118del MANE Select NP_001371069.1:n.4368-2153_4368-2118del
Search 100 bp 5'
Search 100 bp 3'