Canonical Allele Identifier: CA2573145199
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677105
ClinVar RCV Id: RCV002222963
dbSNP Id: rs2132494091

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822461_53822474del , CM000672.2:g.53822461_53822474del GRCh38
NC_000010.10:g.55582221_55582234del , CM000672.1:g.55582221_55582234del GRCh37
NC_000010.9:g.55252227_55252240del NCBI36
NG_009191.2:g.983819_983832del
NG_009191.3:g.1811710_1811723del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2663_4409+2676del ENSP00000482794.1:n.4409+2663_4409+2676del
ENST00000320301.11:c.5253_5266del MANE Plus Clinical ENSP00000322604.6:p.Pro1752PhefsTer14
ENST00000395445.6:c.4388+4920_4388+4933del ENSP00000378832.2:n.4388+4920_4388+4933del
ENST00000613657.5:c.4409+2663_4409+2676del ENSP00000482794.1:n.4409+2663_4409+2676del
ENST00000642496.1:c.3227-2243_3227-2230del
ENST00000644397.2:c.4368-2243_4368-2230del MANE Select ENSP00000495195.1:n.4368-2243_4368-2230del
ENST00000320301.10:c.5253_5266del ENSP00000322604.6:p.Pro1752PhefsTer14
ENST00000361849.7:c.5259_5272del ENSP00000354950.3:p.Pro1754PhefsTer14
ENST00000373956.7:c.*3208_*3221del ENSP00000363067.4:n.*3208_*3221del
ENST00000373957.7:c.5274_5287del ENSP00000363068.4:p.Pro1759PhefsTer14
ENST00000373965.6:c.4373+2663_4373+2676del ENSP00000363076.3:n.4373+2663_4373+2676del
ENST00000395430.5:c.5244_5257del ENSP00000378818.1:p.Pro1749PhefsTer14
ENST00000395432.6:c.5133_5146del ENSP00000378820.2:p.Pro1712PhefsTer14
ENST00000395433.5:c.5184_5197del ENSP00000378821.1:p.Pro1729PhefsTer14
ENST00000395438.5:c.4371+4919_4371+4932del ENSP00000378826.2:n.4371+4919_4371+4932del
ENST00000395440.5:c.1306-12927_1306-12914del ENSP00000378827.1:n.1306-12927_1306-12914del
ENST00000395442.5:c.1099-12927_1099-12914del ENSP00000378829.1:n.1099-12927_1099-12914del
ENST00000395445.5:c.4388+4920_4388+4933del ENSP00000378832.2:n.4388+4920_4388+4933del
ENST00000395446.5:c.2092-12927_2092-12914del ENSP00000378833.1:n.2092-12927_2092-12914del
ENST00000409834.5:c.3206+2663_3206+2676del ENSP00000386693.1:n.3206+2663_3206+2676del
ENST00000414367.5:c.*447+4920_*447+4933del ENSP00000412531.1:n.*447+4920_*447+4933del
ENST00000414778.5:c.4370+4920_4370+4933del ENSP00000410304.2:n.4370+4920_4370+4933del
ENST00000437009.5:c.5046_5059del ENSP00000412628.2:p.Pro1683PhefsTer14
ENST00000448885.5:c.*3214_*3227del ENSP00000412320.1:n.*3214_*3227del
ENST00000463095.2:n.2272_2285del
ENST00000495484.5:c.462-4460_462-4447del ENSP00000480780.1:n.462-4460_462-4447del
ENST00000612394.4:c.4406+4920_4406+4933del ENSP00000482921.1:n.4406+4920_4406+4933del
ENST00000613657.4:c.4409+2663_4409+2676del ENSP00000482794.1:n.4409+2663_4409+2676del
ENST00000614895.4:c.4385+4920_4385+4933del ENSP00000478512.1:n.4385+4920_4385+4933del
ENST00000616114.4:c.4367+4920_4367+4933del ENSP00000483745.1:n.4367+4920_4367+4933del
ENST00000617051.4:c.5280_5293del ENSP00000484703.1:p.Pro1761PhefsTer14
ENST00000617271.4:c.4373+2663_4373+2676del ENSP00000478076.1:n.4373+2663_4373+2676del
ENST00000618301.4:c.594-4460_594-4447del ENSP00000482780.1:n.594-4460_594-4447del
ENST00000621708.4:c.4388+2663_4388+2676del ENSP00000484454.1:n.4388+2663_4388+2676del
ENST00000622048.4:c.5052_5065del ENSP00000482329.1:p.Pro1685PhefsTer14
NM_001142763.1:c.5274_5287del NP_001136235.1:p.Pro1759PhefsTer14
NM_001142764.1:c.5259_5272del NP_001136236.1:p.Pro1754PhefsTer14
NM_001142765.1:c.5046_5059del NP_001136237.1:p.Pro1683PhefsTer14
NM_001142766.1:c.5244_5257del NP_001136238.1:p.Pro1749PhefsTer14
NM_001142767.1:c.5133_5146del NP_001136239.1:p.Pro1712PhefsTer14
NM_001142768.1:c.5193_5206del NP_001136240.1:p.Pro1732PhefsTer14
NM_001142769.1:c.4409+2663_4409+2676del NP_001136241.1:n.4409+2663_4409+2676del
NM_001142770.1:c.4373+2663_4373+2676del NP_001136242.1:n.4373+2663_4373+2676del
NM_001142771.1:c.4388+2663_4388+2676del NP_001136243.1:n.4388+2663_4388+2676del
NM_001142772.1:c.4373+2663_4373+2676del NP_001136244.1:n.4373+2663_4373+2676del
NM_001142773.1:c.5184_5197del NP_001136245.1:p.Pro1729PhefsTer14
NM_033056.3:c.5253_5266del NP_149045.3:p.Pro1752PhefsTer14
NM_001142769.2:c.4409+2663_4409+2676del NP_001136241.1:n.4409+2663_4409+2676del
NM_001142770.2:c.4373+2663_4373+2676del NP_001136242.1:n.4373+2663_4373+2676del
NM_001354404.1:c.5187_5200del NP_001341333.1:p.Pro1730PhefsTer14
NM_001354411.1:c.4388+4920_4388+4933del NP_001341340.1:n.4388+4920_4388+4933del
NM_001354420.1:c.4367+4920_4367+4933del NP_001341349.1:n.4367+4920_4367+4933del
NM_001354429.1:c.4368-4460_4368-4447del NP_001341358.1:n.4368-4460_4368-4447del
XM_017016573.2:c.4388+2663_4388+2676del XP_016872062.1:n.4388+2663_4388+2676del
XR_001747192.2:n.6266_6279del
XR_001747193.2:n.6257_6270del
NM_001142763.2:c.5274_5287del NP_001136235.1:p.Pro1759PhefsTer14
NM_001142764.2:c.5259_5272del NP_001136236.1:p.Pro1754PhefsTer14
NM_001142765.2:c.5046_5059del NP_001136237.1:p.Pro1683PhefsTer14
NM_001142766.2:c.5244_5257del NP_001136238.1:p.Pro1749PhefsTer14
NM_001142768.2:c.5193_5206del NP_001136240.1:p.Pro1732PhefsTer14
NM_001142769.3:c.4409+2663_4409+2676del NP_001136241.1:n.4409+2663_4409+2676del
NM_001142770.3:c.4373+2663_4373+2676del NP_001136242.1:n.4373+2663_4373+2676del
NM_001142771.2:c.4388+2663_4388+2676del NP_001136243.1:n.4388+2663_4388+2676del
NM_001142772.2:c.4373+2663_4373+2676del NP_001136244.1:n.4373+2663_4373+2676del
NM_001142773.2:c.5184_5197del NP_001136245.1:p.Pro1729PhefsTer14
NM_001354411.2:c.4388+4920_4388+4933del NP_001341340.1:n.4388+4920_4388+4933del
NM_001354420.2:c.4367+4920_4367+4933del NP_001341349.1:n.4367+4920_4367+4933del
NM_001354429.2:c.4368-4460_4368-4447del NP_001341358.1:n.4368-4460_4368-4447del
NM_033056.4:c.5253_5266del MANE Plus Clinical NP_149045.3:p.Pro1752PhefsTer14
NM_001142767.2:c.5133_5146del NP_001136239.1:p.Pro1712PhefsTer14
NM_001354404.2:c.5187_5200del NP_001341333.1:p.Pro1730PhefsTer14
NM_001384140.1:c.4368-2243_4368-2230del MANE Select NP_001371069.1:n.4368-2243_4368-2230del