Canonical Allele Identifier: CA2609212808
Gene: PCDH15 HGNC NCBI

Linked Data

gnomAD v4: 10-53823494-G-GGCCAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823494_53823495insGCCAAA , CM000672.2:g.53823494_53823495insGCCAAA GRCh38
NC_000010.10:g.55583254_55583255insGCCAAA , CM000672.1:g.55583254_55583255insGCCAAA GRCh37
NC_000010.9:g.55253260_55253261insGCCAAA NCBI36
NG_009191.2:g.982797_982798insTTTGGC
NG_009191.3:g.1810688_1810689insTTTGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1641_4409+1642insTTTGGC ENSP00000482794.1:n.4409+1641_4409+1642insTTTGGC
ENST00000320301.11:c.4368-137_4368-136insTTTGGC MANE Plus Clinical ENSP00000322604.6:n.4368-137_4368-136insTTTGGC
ENST00000395445.6:c.4388+3898_4388+3899insTTTGGC ENSP00000378832.2:n.4388+3898_4388+3899insTTTGGC
ENST00000613657.5:c.4409+1641_4409+1642insTTTGGC ENSP00000482794.1:n.4409+1641_4409+1642insTTTGGC
ENST00000642496.1:c.3227-3265_3227-3264insTTTGGC
ENST00000644397.2:c.4368-3265_4368-3264insTTTGGC MANE Select ENSP00000495195.1:n.4368-3265_4368-3264insTTTGGC
ENST00000320301.10:c.4368-137_4368-136insTTTGGC ENSP00000322604.6:n.4368-137_4368-136insTTTGGC
ENST00000361849.7:c.4374-137_4374-136insTTTGGC ENSP00000354950.3:n.4374-137_4374-136insTTTGGC
ENST00000373956.7:c.*2323-137_*2323-136insTTTGGC ENSP00000363067.4:n.*2323-137_*2323-136insTTTGGC
ENST00000373957.7:c.4389-137_4389-136insTTTGGC ENSP00000363068.4:n.4389-137_4389-136insTTTGGC
ENST00000373965.6:c.4373+1641_4373+1642insTTTGGC ENSP00000363076.3:n.4373+1641_4373+1642insTTTGGC
ENST00000395430.5:c.4359-137_4359-136insTTTGGC ENSP00000378818.1:n.4359-137_4359-136insTTTGGC
ENST00000395432.6:c.4248-137_4248-136insTTTGGC ENSP00000378820.2:n.4248-137_4248-136insTTTGGC
ENST00000395433.5:c.4299-137_4299-136insTTTGGC ENSP00000378821.1:n.4299-137_4299-136insTTTGGC
ENST00000395438.5:c.4371+3897_4371+3898insTTTGGC ENSP00000378826.2:n.4371+3897_4371+3898insTTTGGC
ENST00000395440.5:c.1306-13949_1306-13948insTTTGGC ENSP00000378827.1:n.1306-13949_1306-13948insTTTGGC
ENST00000395442.5:c.1099-13949_1099-13948insTTTGGC ENSP00000378829.1:n.1099-13949_1099-13948insTTTGGC
ENST00000395445.5:c.4388+3898_4388+3899insTTTGGC ENSP00000378832.2:n.4388+3898_4388+3899insTTTGGC
ENST00000395446.5:c.2092-13949_2092-13948insTTTGGC ENSP00000378833.1:n.2092-13949_2092-13948insTTTGGC
ENST00000409834.5:c.3206+1641_3206+1642insTTTGGC ENSP00000386693.1:n.3206+1641_3206+1642insTTTGGC
ENST00000414367.5:c.*447+3898_*447+3899insTTTGGC ENSP00000412531.1:n.*447+3898_*447+3899insTTTGGC
ENST00000414778.5:c.4370+3898_4370+3899insTTTGGC ENSP00000410304.2:n.4370+3898_4370+3899insTTTGGC
ENST00000437009.5:c.4161-137_4161-136insTTTGGC ENSP00000412628.2:n.4161-137_4161-136insTTTGGC
ENST00000448885.5:c.*2329-137_*2329-136insTTTGGC ENSP00000412320.1:n.*2329-137_*2329-136insTTTGGC
ENST00000463095.2:n.1387-137_1387-136insTTTGGC
ENST00000495484.5:c.462-5482_462-5481insTTTGGC ENSP00000480780.1:n.462-5482_462-5481insTTTGGC
ENST00000612394.4:c.4406+3898_4406+3899insTTTGGC ENSP00000482921.1:n.4406+3898_4406+3899insTTTGGC
ENST00000613657.4:c.4409+1641_4409+1642insTTTGGC ENSP00000482794.1:n.4409+1641_4409+1642insTTTGGC
ENST00000614895.4:c.4385+3898_4385+3899insTTTGGC ENSP00000478512.1:n.4385+3898_4385+3899insTTTGGC
ENST00000616114.4:c.4367+3898_4367+3899insTTTGGC ENSP00000483745.1:n.4367+3898_4367+3899insTTTGGC
ENST00000617051.4:c.4386-128_4386-127insTTTGGC ENSP00000484703.1:n.4386-128_4386-127insTTTGGC
ENST00000617271.4:c.4373+1641_4373+1642insTTTGGC ENSP00000478076.1:n.4373+1641_4373+1642insTTTGGC
ENST00000618301.4:c.593+3898_593+3899insTTTGGC ENSP00000482780.1:n.593+3898_593+3899insTTTGGC
ENST00000621708.4:c.4388+1641_4388+1642insTTTGGC ENSP00000484454.1:n.4388+1641_4388+1642insTTTGGC
ENST00000622048.4:c.4158-128_4158-127insTTTGGC ENSP00000482329.1:n.4158-128_4158-127insTTTGGC
NM_001142763.1:c.4389-137_4389-136insTTTGGC NP_001136235.1:n.4389-137_4389-136insTTTGGC
NM_001142764.1:c.4374-137_4374-136insTTTGGC NP_001136236.1:n.4374-137_4374-136insTTTGGC
NM_001142765.1:c.4161-137_4161-136insTTTGGC NP_001136237.1:n.4161-137_4161-136insTTTGGC
NM_001142766.1:c.4359-137_4359-136insTTTGGC NP_001136238.1:n.4359-137_4359-136insTTTGGC
NM_001142767.1:c.4248-137_4248-136insTTTGGC NP_001136239.1:n.4248-137_4248-136insTTTGGC
NM_001142768.1:c.4308-137_4308-136insTTTGGC NP_001136240.1:n.4308-137_4308-136insTTTGGC
NM_001142769.1:c.4409+1641_4409+1642insTTTGGC NP_001136241.1:n.4409+1641_4409+1642insTTTGGC
NM_001142770.1:c.4373+1641_4373+1642insTTTGGC NP_001136242.1:n.4373+1641_4373+1642insTTTGGC
NM_001142771.1:c.4388+1641_4388+1642insTTTGGC NP_001136243.1:n.4388+1641_4388+1642insTTTGGC
NM_001142772.1:c.4373+1641_4373+1642insTTTGGC NP_001136244.1:n.4373+1641_4373+1642insTTTGGC
NM_001142773.1:c.4299-137_4299-136insTTTGGC NP_001136245.1:n.4299-137_4299-136insTTTGGC
NM_033056.3:c.4368-137_4368-136insTTTGGC NP_149045.3:n.4368-137_4368-136insTTTGGC
NM_001142769.2:c.4409+1641_4409+1642insTTTGGC NP_001136241.1:n.4409+1641_4409+1642insTTTGGC
NM_001142770.2:c.4373+1641_4373+1642insTTTGGC NP_001136242.1:n.4373+1641_4373+1642insTTTGGC
NM_001354404.1:c.4302-137_4302-136insTTTGGC NP_001341333.1:n.4302-137_4302-136insTTTGGC
NM_001354411.1:c.4388+3898_4388+3899insTTTGGC NP_001341340.1:n.4388+3898_4388+3899insTTTGGC
NM_001354420.1:c.4367+3898_4367+3899insTTTGGC NP_001341349.1:n.4367+3898_4367+3899insTTTGGC
NM_001354429.1:c.4367+3898_4367+3899insTTTGGC NP_001341358.1:n.4367+3898_4367+3899insTTTGGC
XM_017016573.2:c.4388+1641_4388+1642insTTTGGC XP_016872062.1:n.4388+1641_4388+1642insTTTGGC
XR_001747192.2:n.5381-137_5381-136insTTTGGC
XR_001747193.2:n.5372-137_5372-136insTTTGGC
NM_001142763.2:c.4389-137_4389-136insTTTGGC NP_001136235.1:n.4389-137_4389-136insTTTGGC
NM_001142764.2:c.4374-137_4374-136insTTTGGC NP_001136236.1:n.4374-137_4374-136insTTTGGC
NM_001142765.2:c.4161-137_4161-136insTTTGGC NP_001136237.1:n.4161-137_4161-136insTTTGGC
NM_001142766.2:c.4359-137_4359-136insTTTGGC NP_001136238.1:n.4359-137_4359-136insTTTGGC
NM_001142768.2:c.4308-137_4308-136insTTTGGC NP_001136240.1:n.4308-137_4308-136insTTTGGC
NM_001142769.3:c.4409+1641_4409+1642insTTTGGC NP_001136241.1:n.4409+1641_4409+1642insTTTGGC
NM_001142770.3:c.4373+1641_4373+1642insTTTGGC NP_001136242.1:n.4373+1641_4373+1642insTTTGGC
NM_001142771.2:c.4388+1641_4388+1642insTTTGGC NP_001136243.1:n.4388+1641_4388+1642insTTTGGC
NM_001142772.2:c.4373+1641_4373+1642insTTTGGC NP_001136244.1:n.4373+1641_4373+1642insTTTGGC
NM_001142773.2:c.4299-137_4299-136insTTTGGC NP_001136245.1:n.4299-137_4299-136insTTTGGC
NM_001354411.2:c.4388+3898_4388+3899insTTTGGC NP_001341340.1:n.4388+3898_4388+3899insTTTGGC
NM_001354420.2:c.4367+3898_4367+3899insTTTGGC NP_001341349.1:n.4367+3898_4367+3899insTTTGGC
NM_001354429.2:c.4367+3898_4367+3899insTTTGGC NP_001341358.1:n.4367+3898_4367+3899insTTTGGC
NM_033056.4:c.4368-137_4368-136insTTTGGC MANE Plus Clinical NP_149045.3:n.4368-137_4368-136insTTTGGC
NM_001142767.2:c.4248-137_4248-136insTTTGGC NP_001136239.1:n.4248-137_4248-136insTTTGGC
NM_001354404.2:c.4302-137_4302-136insTTTGGC NP_001341333.1:n.4302-137_4302-136insTTTGGC
NM_001384140.1:c.4368-3265_4368-3264insTTTGGC MANE Select NP_001371069.1:n.4368-3265_4368-3264insTTTGGC
Search 100 bp 5'
Search 100 bp 3'