Canonical Allele Identifier: CA912970186
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822407_53822410del , CM000672.2:g.53822407_53822410del GRCh38
NC_000010.10:g.55582167_55582170del , CM000672.1:g.55582167_55582170del GRCh37
NC_000010.9:g.55252173_55252176del NCBI36
NG_009191.2:g.983883_983886del
NG_009191.3:g.1811774_1811777del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2727_4409+2730del ENSP00000482794.1:n.4409+2727_4409+2730del
ENST00000320301.11:c.5317_5320del MANE Plus Clinical ENSP00000322604.6:p.Pro1773PhefsTer?
ENST00000395445.6:c.4388+4984_4388+4987del ENSP00000378832.2:n.4388+4984_4388+4987del
ENST00000613657.5:c.4409+2727_4409+2730del ENSP00000482794.1:n.4409+2727_4409+2730del
ENST00000642496.1:c.3227-2179_3227-2176del
ENST00000644397.2:c.4368-2179_4368-2176del MANE Select ENSP00000495195.1:n.4368-2179_4368-2176del
ENST00000320301.10:c.5317_5320del ENSP00000322604.6:p.Pro1773PhefsTer?
ENST00000361849.7:c.5323_5326del ENSP00000354950.3:p.Pro1775PhefsTer?
ENST00000373956.7:c.*3272_*3275del ENSP00000363067.4:n.*3272_*3275del
ENST00000373957.7:c.5338_5341del ENSP00000363068.4:p.Pro1780PhefsTer?
ENST00000373965.6:c.4373+2727_4373+2730del ENSP00000363076.3:n.4373+2727_4373+2730del
ENST00000395430.5:c.5308_5311del ENSP00000378818.1:p.Pro1770PhefsTer?
ENST00000395432.6:c.5197_5200del ENSP00000378820.2:p.Pro1733PhefsTer?
ENST00000395433.5:c.5248_5251del ENSP00000378821.1:p.Pro1750PhefsTer?
ENST00000395438.5:c.4371+4983_4371+4986del ENSP00000378826.2:n.4371+4983_4371+4986del
ENST00000395440.5:c.1306-12863_1306-12860del ENSP00000378827.1:n.1306-12863_1306-12860del
ENST00000395442.5:c.1099-12863_1099-12860del ENSP00000378829.1:n.1099-12863_1099-12860del
ENST00000395445.5:c.4388+4984_4388+4987del ENSP00000378832.2:n.4388+4984_4388+4987del
ENST00000395446.5:c.2092-12863_2092-12860del ENSP00000378833.1:n.2092-12863_2092-12860del
ENST00000409834.5:c.3206+2727_3206+2730del ENSP00000386693.1:n.3206+2727_3206+2730del
ENST00000414367.5:c.*447+4984_*447+4987del ENSP00000412531.1:n.*447+4984_*447+4987del
ENST00000414778.5:c.4370+4984_4370+4987del ENSP00000410304.2:n.4370+4984_4370+4987del
ENST00000437009.5:c.5110_5113del ENSP00000412628.2:p.Pro1704PhefsTer?
ENST00000448885.5:c.*3278_*3281del ENSP00000412320.1:n.*3278_*3281del
ENST00000463095.2:n.2336_2339del
ENST00000495484.5:c.462-4396_462-4393del ENSP00000480780.1:n.462-4396_462-4393del
ENST00000612394.4:c.4406+4984_4406+4987del ENSP00000482921.1:n.4406+4984_4406+4987del
ENST00000613657.4:c.4409+2727_4409+2730del ENSP00000482794.1:n.4409+2727_4409+2730del
ENST00000614895.4:c.4385+4984_4385+4987del ENSP00000478512.1:n.4385+4984_4385+4987del
ENST00000616114.4:c.4367+4984_4367+4987del ENSP00000483745.1:n.4367+4984_4367+4987del
ENST00000617051.4:c.5344_5347del ENSP00000484703.1:p.Pro1782PhefsTer?
ENST00000617271.4:c.4373+2727_4373+2730del ENSP00000478076.1:n.4373+2727_4373+2730del
ENST00000618301.4:c.594-4396_594-4393del ENSP00000482780.1:n.594-4396_594-4393del
ENST00000621708.4:c.4388+2727_4388+2730del ENSP00000484454.1:n.4388+2727_4388+2730del
ENST00000622048.4:c.5116_5119del ENSP00000482329.1:p.Pro1706PhefsTer?
NM_001142763.1:c.5338_5341del NP_001136235.1:p.Pro1780PhefsTer?
NM_001142764.1:c.5323_5326del NP_001136236.1:p.Pro1775PhefsTer?
NM_001142765.1:c.5110_5113del NP_001136237.1:p.Pro1704PhefsTer?
NM_001142766.1:c.5308_5311del NP_001136238.1:p.Pro1770PhefsTer?
NM_001142767.1:c.5197_5200del NP_001136239.1:p.Pro1733PhefsTer?
NM_001142768.1:c.5257_5260del NP_001136240.1:p.Pro1753PhefsTer?
NM_001142769.1:c.4409+2727_4409+2730del NP_001136241.1:n.4409+2727_4409+2730del
NM_001142770.1:c.4373+2727_4373+2730del NP_001136242.1:n.4373+2727_4373+2730del
NM_001142771.1:c.4388+2727_4388+2730del NP_001136243.1:n.4388+2727_4388+2730del
NM_001142772.1:c.4373+2727_4373+2730del NP_001136244.1:n.4373+2727_4373+2730del
NM_001142773.1:c.5248_5251del NP_001136245.1:p.Pro1750PhefsTer?
NM_033056.3:c.5317_5320del NP_149045.3:p.Pro1773PhefsTer?
NM_001142769.2:c.4409+2727_4409+2730del NP_001136241.1:n.4409+2727_4409+2730del
NM_001142770.2:c.4373+2727_4373+2730del NP_001136242.1:n.4373+2727_4373+2730del
NM_001354404.1:c.5251_5254del NP_001341333.1:p.Pro1751PhefsTer?
NM_001354411.1:c.4388+4984_4388+4987del NP_001341340.1:n.4388+4984_4388+4987del
NM_001354420.1:c.4367+4984_4367+4987del NP_001341349.1:n.4367+4984_4367+4987del
NM_001354429.1:c.4368-4396_4368-4393del NP_001341358.1:n.4368-4396_4368-4393del
XM_017016573.2:c.4388+2727_4388+2730del XP_016872062.1:n.4388+2727_4388+2730del
XR_001747192.2:n.6330_6333del
XR_001747193.2:n.6321_6324del
NM_001142763.2:c.5338_5341del NP_001136235.1:p.Pro1780PhefsTer?
NM_001142764.2:c.5323_5326del NP_001136236.1:p.Pro1775PhefsTer?
NM_001142765.2:c.5110_5113del NP_001136237.1:p.Pro1704PhefsTer?
NM_001142766.2:c.5308_5311del NP_001136238.1:p.Pro1770PhefsTer?
NM_001142768.2:c.5257_5260del NP_001136240.1:p.Pro1753PhefsTer?
NM_001142769.3:c.4409+2727_4409+2730del NP_001136241.1:n.4409+2727_4409+2730del
NM_001142770.3:c.4373+2727_4373+2730del NP_001136242.1:n.4373+2727_4373+2730del
NM_001142771.2:c.4388+2727_4388+2730del NP_001136243.1:n.4388+2727_4388+2730del
NM_001142772.2:c.4373+2727_4373+2730del NP_001136244.1:n.4373+2727_4373+2730del
NM_001142773.2:c.5248_5251del NP_001136245.1:p.Pro1750PhefsTer?
NM_001354411.2:c.4388+4984_4388+4987del NP_001341340.1:n.4388+4984_4388+4987del
NM_001354420.2:c.4367+4984_4367+4987del NP_001341349.1:n.4367+4984_4367+4987del
NM_001354429.2:c.4368-4396_4368-4393del NP_001341358.1:n.4368-4396_4368-4393del
NM_033056.4:c.5317_5320del MANE Plus Clinical NP_149045.3:p.Pro1773PhefsTer?
NM_001142767.2:c.5197_5200del NP_001136239.1:p.Pro1733PhefsTer?
NM_001354404.2:c.5251_5254del NP_001341333.1:p.Pro1751PhefsTer?
NM_001384140.1:c.4368-2179_4368-2176del MANE Select NP_001371069.1:n.4368-2179_4368-2176del