Canonical Allele Identifier: CA2788035420
Gene: PCDH15 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823634_53823645del , CM000672.2:g.53823634_53823645del GRCh38
NC_000010.10:g.55583394_55583405del , CM000672.1:g.55583394_55583405del GRCh37
NC_000010.9:g.55253400_55253411del NCBI36
NG_009191.2:g.982648_982659del
NG_009191.3:g.1810539_1810550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1492_4409+1503del ENSP00000482794.1:n.4409+1492_4409+1503del
ENST00000320301.11:c.4368-286_4368-275del MANE Plus Clinical ENSP00000322604.6:n.4368-286_4368-275del
ENST00000395445.6:c.4388+3749_4388+3760del ENSP00000378832.2:n.4388+3749_4388+3760del
ENST00000613657.5:c.4409+1492_4409+1503del ENSP00000482794.1:n.4409+1492_4409+1503del
ENST00000642496.1:c.3227-3414_3227-3403del
ENST00000644397.2:c.4368-3414_4368-3403del MANE Select ENSP00000495195.1:n.4368-3414_4368-3403del
ENST00000320301.10:c.4368-286_4368-275del ENSP00000322604.6:n.4368-286_4368-275del
ENST00000361849.7:c.4374-286_4374-275del ENSP00000354950.3:n.4374-286_4374-275del
ENST00000373956.7:c.*2323-286_*2323-275del ENSP00000363067.4:n.*2323-286_*2323-275del
ENST00000373957.7:c.4389-286_4389-275del ENSP00000363068.4:n.4389-286_4389-275del
ENST00000373965.6:c.4373+1492_4373+1503del ENSP00000363076.3:n.4373+1492_4373+1503del
ENST00000395430.5:c.4359-286_4359-275del ENSP00000378818.1:n.4359-286_4359-275del
ENST00000395432.6:c.4248-286_4248-275del ENSP00000378820.2:n.4248-286_4248-275del
ENST00000395433.5:c.4299-286_4299-275del ENSP00000378821.1:n.4299-286_4299-275del
ENST00000395438.5:c.4371+3748_4371+3759del ENSP00000378826.2:n.4371+3748_4371+3759del
ENST00000395440.5:c.1306-14098_1306-14087del ENSP00000378827.1:n.1306-14098_1306-14087del
ENST00000395442.5:c.1099-14098_1099-14087del ENSP00000378829.1:n.1099-14098_1099-14087del
ENST00000395445.5:c.4388+3749_4388+3760del ENSP00000378832.2:n.4388+3749_4388+3760del
ENST00000395446.5:c.2092-14098_2092-14087del ENSP00000378833.1:n.2092-14098_2092-14087del
ENST00000409834.5:c.3206+1492_3206+1503del ENSP00000386693.1:n.3206+1492_3206+1503del
ENST00000414367.5:c.*447+3749_*447+3760del ENSP00000412531.1:n.*447+3749_*447+3760del
ENST00000414778.5:c.4370+3749_4370+3760del ENSP00000410304.2:n.4370+3749_4370+3760del
ENST00000437009.5:c.4161-286_4161-275del ENSP00000412628.2:n.4161-286_4161-275del
ENST00000448885.5:c.*2329-286_*2329-275del ENSP00000412320.1:n.*2329-286_*2329-275del
ENST00000463095.2:n.1387-286_1387-275del
ENST00000495484.5:c.462-5631_462-5620del ENSP00000480780.1:n.462-5631_462-5620del
ENST00000612394.4:c.4406+3749_4406+3760del ENSP00000482921.1:n.4406+3749_4406+3760del
ENST00000613657.4:c.4409+1492_4409+1503del ENSP00000482794.1:n.4409+1492_4409+1503del
ENST00000614895.4:c.4385+3749_4385+3760del ENSP00000478512.1:n.4385+3749_4385+3760del
ENST00000616114.4:c.4367+3749_4367+3760del ENSP00000483745.1:n.4367+3749_4367+3760del
ENST00000617051.4:c.4386-277_4386-266del ENSP00000484703.1:n.4386-277_4386-266del
ENST00000617271.4:c.4373+1492_4373+1503del ENSP00000478076.1:n.4373+1492_4373+1503del
ENST00000618301.4:c.593+3749_593+3760del ENSP00000482780.1:n.593+3749_593+3760del
ENST00000621708.4:c.4388+1492_4388+1503del ENSP00000484454.1:n.4388+1492_4388+1503del
ENST00000622048.4:c.4158-277_4158-266del ENSP00000482329.1:n.4158-277_4158-266del
NM_001142763.1:c.4389-286_4389-275del NP_001136235.1:n.4389-286_4389-275del
NM_001142764.1:c.4374-286_4374-275del NP_001136236.1:n.4374-286_4374-275del
NM_001142765.1:c.4161-286_4161-275del NP_001136237.1:n.4161-286_4161-275del
NM_001142766.1:c.4359-286_4359-275del NP_001136238.1:n.4359-286_4359-275del
NM_001142767.1:c.4248-286_4248-275del NP_001136239.1:n.4248-286_4248-275del
NM_001142768.1:c.4308-286_4308-275del NP_001136240.1:n.4308-286_4308-275del
NM_001142769.1:c.4409+1492_4409+1503del NP_001136241.1:n.4409+1492_4409+1503del
NM_001142770.1:c.4373+1492_4373+1503del NP_001136242.1:n.4373+1492_4373+1503del
NM_001142771.1:c.4388+1492_4388+1503del NP_001136243.1:n.4388+1492_4388+1503del
NM_001142772.1:c.4373+1492_4373+1503del NP_001136244.1:n.4373+1492_4373+1503del
NM_001142773.1:c.4299-286_4299-275del NP_001136245.1:n.4299-286_4299-275del
NM_033056.3:c.4368-286_4368-275del NP_149045.3:n.4368-286_4368-275del
NM_001142769.2:c.4409+1492_4409+1503del NP_001136241.1:n.4409+1492_4409+1503del
NM_001142770.2:c.4373+1492_4373+1503del NP_001136242.1:n.4373+1492_4373+1503del
NM_001354404.1:c.4302-286_4302-275del NP_001341333.1:n.4302-286_4302-275del
NM_001354411.1:c.4388+3749_4388+3760del NP_001341340.1:n.4388+3749_4388+3760del
NM_001354420.1:c.4367+3749_4367+3760del NP_001341349.1:n.4367+3749_4367+3760del
NM_001354429.1:c.4367+3749_4367+3760del NP_001341358.1:n.4367+3749_4367+3760del
XM_017016573.2:c.4388+1492_4388+1503del XP_016872062.1:n.4388+1492_4388+1503del
XR_001747192.2:n.5381-286_5381-275del
XR_001747193.2:n.5372-286_5372-275del
NM_001142763.2:c.4389-286_4389-275del NP_001136235.1:n.4389-286_4389-275del
NM_001142764.2:c.4374-286_4374-275del NP_001136236.1:n.4374-286_4374-275del
NM_001142765.2:c.4161-286_4161-275del NP_001136237.1:n.4161-286_4161-275del
NM_001142766.2:c.4359-286_4359-275del NP_001136238.1:n.4359-286_4359-275del
NM_001142768.2:c.4308-286_4308-275del NP_001136240.1:n.4308-286_4308-275del
NM_001142769.3:c.4409+1492_4409+1503del NP_001136241.1:n.4409+1492_4409+1503del
NM_001142770.3:c.4373+1492_4373+1503del NP_001136242.1:n.4373+1492_4373+1503del
NM_001142771.2:c.4388+1492_4388+1503del NP_001136243.1:n.4388+1492_4388+1503del
NM_001142772.2:c.4373+1492_4373+1503del NP_001136244.1:n.4373+1492_4373+1503del
NM_001142773.2:c.4299-286_4299-275del NP_001136245.1:n.4299-286_4299-275del
NM_001354411.2:c.4388+3749_4388+3760del NP_001341340.1:n.4388+3749_4388+3760del
NM_001354420.2:c.4367+3749_4367+3760del NP_001341349.1:n.4367+3749_4367+3760del
NM_001354429.2:c.4367+3749_4367+3760del NP_001341358.1:n.4367+3749_4367+3760del
NM_033056.4:c.4368-286_4368-275del MANE Plus Clinical NP_149045.3:n.4368-286_4368-275del
NM_001142767.2:c.4248-286_4248-275del NP_001136239.1:n.4248-286_4248-275del
NM_001354404.2:c.4302-286_4302-275del NP_001341333.1:n.4302-286_4302-275del
NM_001384140.1:c.4368-3414_4368-3403del MANE Select NP_001371069.1:n.4368-3414_4368-3403del
Search 100 bp 5'
Search 100 bp 3'