Canonical Allele Identifier: CA2788035382
Gene: PCDH15 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823495_53823496del , CM000672.2:g.53823495_53823496del GRCh38
NC_000010.10:g.55583255_55583256del , CM000672.1:g.55583255_55583256del GRCh37
NC_000010.9:g.55253261_55253262del NCBI36
NG_009191.2:g.982796_982797del
NG_009191.3:g.1810687_1810688del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1640_4409+1641del ENSP00000482794.1:n.4409+1640_4409+1641del
ENST00000320301.11:c.4368-138_4368-137del MANE Plus Clinical ENSP00000322604.6:n.4368-138_4368-137del
ENST00000395445.6:c.4388+3897_4388+3898del ENSP00000378832.2:n.4388+3897_4388+3898del
ENST00000613657.5:c.4409+1640_4409+1641del ENSP00000482794.1:n.4409+1640_4409+1641del
ENST00000642496.1:c.3227-3266_3227-3265del
ENST00000644397.2:c.4368-3266_4368-3265del MANE Select ENSP00000495195.1:n.4368-3266_4368-3265del
ENST00000320301.10:c.4368-138_4368-137del ENSP00000322604.6:n.4368-138_4368-137del
ENST00000361849.7:c.4374-138_4374-137del ENSP00000354950.3:n.4374-138_4374-137del
ENST00000373956.7:c.*2323-138_*2323-137del ENSP00000363067.4:n.*2323-138_*2323-137del
ENST00000373957.7:c.4389-138_4389-137del ENSP00000363068.4:n.4389-138_4389-137del
ENST00000373965.6:c.4373+1640_4373+1641del ENSP00000363076.3:n.4373+1640_4373+1641del
ENST00000395430.5:c.4359-138_4359-137del ENSP00000378818.1:n.4359-138_4359-137del
ENST00000395432.6:c.4248-138_4248-137del ENSP00000378820.2:n.4248-138_4248-137del
ENST00000395433.5:c.4299-138_4299-137del ENSP00000378821.1:n.4299-138_4299-137del
ENST00000395438.5:c.4371+3896_4371+3897del ENSP00000378826.2:n.4371+3896_4371+3897del
ENST00000395440.5:c.1306-13950_1306-13949del ENSP00000378827.1:n.1306-13950_1306-13949del
ENST00000395442.5:c.1099-13950_1099-13949del ENSP00000378829.1:n.1099-13950_1099-13949del
ENST00000395445.5:c.4388+3897_4388+3898del ENSP00000378832.2:n.4388+3897_4388+3898del
ENST00000395446.5:c.2092-13950_2092-13949del ENSP00000378833.1:n.2092-13950_2092-13949del
ENST00000409834.5:c.3206+1640_3206+1641del ENSP00000386693.1:n.3206+1640_3206+1641del
ENST00000414367.5:c.*447+3897_*447+3898del ENSP00000412531.1:n.*447+3897_*447+3898del
ENST00000414778.5:c.4370+3897_4370+3898del ENSP00000410304.2:n.4370+3897_4370+3898del
ENST00000437009.5:c.4161-138_4161-137del ENSP00000412628.2:n.4161-138_4161-137del
ENST00000448885.5:c.*2329-138_*2329-137del ENSP00000412320.1:n.*2329-138_*2329-137del
ENST00000463095.2:n.1387-138_1387-137del
ENST00000495484.5:c.462-5483_462-5482del ENSP00000480780.1:n.462-5483_462-5482del
ENST00000612394.4:c.4406+3897_4406+3898del ENSP00000482921.1:n.4406+3897_4406+3898del
ENST00000613657.4:c.4409+1640_4409+1641del ENSP00000482794.1:n.4409+1640_4409+1641del
ENST00000614895.4:c.4385+3897_4385+3898del ENSP00000478512.1:n.4385+3897_4385+3898del
ENST00000616114.4:c.4367+3897_4367+3898del ENSP00000483745.1:n.4367+3897_4367+3898del
ENST00000617051.4:c.4386-129_4386-128del ENSP00000484703.1:n.4386-129_4386-128del
ENST00000617271.4:c.4373+1640_4373+1641del ENSP00000478076.1:n.4373+1640_4373+1641del
ENST00000618301.4:c.593+3897_593+3898del ENSP00000482780.1:n.593+3897_593+3898del
ENST00000621708.4:c.4388+1640_4388+1641del ENSP00000484454.1:n.4388+1640_4388+1641del
ENST00000622048.4:c.4158-129_4158-128del ENSP00000482329.1:n.4158-129_4158-128del
NM_001142763.1:c.4389-138_4389-137del NP_001136235.1:n.4389-138_4389-137del
NM_001142764.1:c.4374-138_4374-137del NP_001136236.1:n.4374-138_4374-137del
NM_001142765.1:c.4161-138_4161-137del NP_001136237.1:n.4161-138_4161-137del
NM_001142766.1:c.4359-138_4359-137del NP_001136238.1:n.4359-138_4359-137del
NM_001142767.1:c.4248-138_4248-137del NP_001136239.1:n.4248-138_4248-137del
NM_001142768.1:c.4308-138_4308-137del NP_001136240.1:n.4308-138_4308-137del
NM_001142769.1:c.4409+1640_4409+1641del NP_001136241.1:n.4409+1640_4409+1641del
NM_001142770.1:c.4373+1640_4373+1641del NP_001136242.1:n.4373+1640_4373+1641del
NM_001142771.1:c.4388+1640_4388+1641del NP_001136243.1:n.4388+1640_4388+1641del
NM_001142772.1:c.4373+1640_4373+1641del NP_001136244.1:n.4373+1640_4373+1641del
NM_001142773.1:c.4299-138_4299-137del NP_001136245.1:n.4299-138_4299-137del
NM_033056.3:c.4368-138_4368-137del NP_149045.3:n.4368-138_4368-137del
NM_001142769.2:c.4409+1640_4409+1641del NP_001136241.1:n.4409+1640_4409+1641del
NM_001142770.2:c.4373+1640_4373+1641del NP_001136242.1:n.4373+1640_4373+1641del
NM_001354404.1:c.4302-138_4302-137del NP_001341333.1:n.4302-138_4302-137del
NM_001354411.1:c.4388+3897_4388+3898del NP_001341340.1:n.4388+3897_4388+3898del
NM_001354420.1:c.4367+3897_4367+3898del NP_001341349.1:n.4367+3897_4367+3898del
NM_001354429.1:c.4367+3897_4367+3898del NP_001341358.1:n.4367+3897_4367+3898del
XM_017016573.2:c.4388+1640_4388+1641del XP_016872062.1:n.4388+1640_4388+1641del
XR_001747192.2:n.5381-138_5381-137del
XR_001747193.2:n.5372-138_5372-137del
NM_001142763.2:c.4389-138_4389-137del NP_001136235.1:n.4389-138_4389-137del
NM_001142764.2:c.4374-138_4374-137del NP_001136236.1:n.4374-138_4374-137del
NM_001142765.2:c.4161-138_4161-137del NP_001136237.1:n.4161-138_4161-137del
NM_001142766.2:c.4359-138_4359-137del NP_001136238.1:n.4359-138_4359-137del
NM_001142768.2:c.4308-138_4308-137del NP_001136240.1:n.4308-138_4308-137del
NM_001142769.3:c.4409+1640_4409+1641del NP_001136241.1:n.4409+1640_4409+1641del
NM_001142770.3:c.4373+1640_4373+1641del NP_001136242.1:n.4373+1640_4373+1641del
NM_001142771.2:c.4388+1640_4388+1641del NP_001136243.1:n.4388+1640_4388+1641del
NM_001142772.2:c.4373+1640_4373+1641del NP_001136244.1:n.4373+1640_4373+1641del
NM_001142773.2:c.4299-138_4299-137del NP_001136245.1:n.4299-138_4299-137del
NM_001354411.2:c.4388+3897_4388+3898del NP_001341340.1:n.4388+3897_4388+3898del
NM_001354420.2:c.4367+3897_4367+3898del NP_001341349.1:n.4367+3897_4367+3898del
NM_001354429.2:c.4367+3897_4367+3898del NP_001341358.1:n.4367+3897_4367+3898del
NM_033056.4:c.4368-138_4368-137del MANE Plus Clinical NP_149045.3:n.4368-138_4368-137del
NM_001142767.2:c.4248-138_4248-137del NP_001136239.1:n.4248-138_4248-137del
NM_001354404.2:c.4302-138_4302-137del NP_001341333.1:n.4302-138_4302-137del
NM_001384140.1:c.4368-3266_4368-3265del MANE Select NP_001371069.1:n.4368-3266_4368-3265del
Search 100 bp 5'
Search 100 bp 3'