Canonical Allele Identifier: CA1910738297
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822349_53822365delinsGAGGAGGAAGAGGAAGA , CM000672.2:g.53822349_53822365delinsGAGGAGGAAGAGGAAGA GRCh38
NC_000010.10:g.55582109_55582125delinsGAGGAGGAAGAGGAAGA , CM000672.1:g.55582109_55582125delinsGAGGAGGAAGAGGAAGA GRCh37
NC_000010.9:g.55252115_55252131delinsGAGGAGGAAGAGGAAGA NCBI36
NG_009191.2:g.983927_983943delinsTCTTCCTCTTCCTCCTC
NG_009191.3:g.1811818_1811834delinsTCTTCCTCTTCCTCCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCTC ENSP00000482794.1:n.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCT...
ENST00000320301.11:c.5361_5377delinsTCTTCCTCTTCCTCCTC MANE Plus Clinical ENSP00000322604.6:p.Pro1787=
ENST00000395445.6:c.4388+5028_4388+5044delinsTCTTCCTCTTCCTCCTC ENSP00000378832.2:n.4388+5028_4388+5044delinsTCTTCCTCTTCCTCCT...
ENST00000613657.5:c.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCTC ENSP00000482794.1:n.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCT...
ENST00000642496.1:c.3227-2135_3227-2119delinsTCTTCCTCTTCCTCCTC
ENST00000644397.2:c.4368-2135_4368-2119delinsTCTTCCTCTTCCTCCTC MANE Select ENSP00000495195.1:n.4368-2135_4368-2119delinsTCTTCCTCTTCCTCCT...
ENST00000320301.10:c.5361_5377delinsTCTTCCTCTTCCTCCTC ENSP00000322604.6:p.Pro1787=
ENST00000361849.7:c.5367_5383delinsTCTTCCTCTTCCTCCTC ENSP00000354950.3:p.Pro1789=
ENST00000373956.7:c.*3316_*3332delinsTCTTCCTCTTCCTCCTC ENSP00000363067.4:n.*3316_*3332delinsTCTTCCTCTTCCTCCTC
ENST00000373957.7:c.5382_5398delinsTCTTCCTCTTCCTCCTC ENSP00000363068.4:p.Pro1794=
ENST00000373965.6:c.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC ENSP00000363076.3:n.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCT...
ENST00000395430.5:c.5352_5368delinsTCTTCCTCTTCCTCCTC ENSP00000378818.1:p.Pro1784=
ENST00000395432.6:c.5241_5257delinsTCTTCCTCTTCCTCCTC ENSP00000378820.2:p.Pro1747=
ENST00000395433.5:c.5292_5308delinsTCTTCCTCTTCCTCCTC ENSP00000378821.1:p.Pro1764=
ENST00000395438.5:c.4371+5027_4371+5043delinsTCTTCCTCTTCCTCCTC ENSP00000378826.2:n.4371+5027_4371+5043delinsTCTTCCTCTTCCTCCT...
ENST00000395440.5:c.1306-12819_1306-12803delinsTCTTCCTCTTCCTCCTC ENSP00000378827.1:n.1306-12819_1306-12803delinsTCTTCCTCTTCCTC...
ENST00000395442.5:c.1099-12819_1099-12803delinsTCTTCCTCTTCCTCCTC ENSP00000378829.1:n.1099-12819_1099-12803delinsTCTTCCTCTTCCTC...
ENST00000395445.5:c.4388+5028_4388+5044delinsTCTTCCTCTTCCTCCTC ENSP00000378832.2:n.4388+5028_4388+5044delinsTCTTCCTCTTCCTCCT...
ENST00000395446.5:c.2092-12819_2092-12803delinsTCTTCCTCTTCCTCCTC ENSP00000378833.1:n.2092-12819_2092-12803delinsTCTTCCTCTTCCTC...
ENST00000409834.5:c.3206+2771_3206+2787delinsTCTTCCTCTTCCTCCTC ENSP00000386693.1:n.3206+2771_3206+2787delinsTCTTCCTCTTCCTCCT...
ENST00000414367.5:c.*447+5028_*447+5044delinsTCTTCCTCTTCCTCCTC ENSP00000412531.1:n.*447+5028_*447+5044delinsTCTTCCTCTTCCTCCT...
ENST00000414778.5:c.4370+5028_4370+5044delinsTCTTCCTCTTCCTCCTC ENSP00000410304.2:n.4370+5028_4370+5044delinsTCTTCCTCTTCCTCCT...
ENST00000437009.5:c.5154_5170delinsTCTTCCTCTTCCTCCTC ENSP00000412628.2:p.Pro1718=
ENST00000448885.5:c.*3322_*3338delinsTCTTCCTCTTCCTCCTC ENSP00000412320.1:n.*3322_*3338delinsTCTTCCTCTTCCTCCTC
ENST00000463095.2:n.2380_2396delinsTCTTCCTCTTCCTCCTC
ENST00000495484.5:c.462-4352_462-4336delinsTCTTCCTCTTCCTCCTC ENSP00000480780.1:n.462-4352_462-4336delinsTCTTCCTCTTCCTCCTC
ENST00000612394.4:c.4406+5028_4406+5044delinsTCTTCCTCTTCCTCCTC ENSP00000482921.1:n.4406+5028_4406+5044delinsTCTTCCTCTTCCTCCT...
ENST00000613657.4:c.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCTC ENSP00000482794.1:n.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCT...
ENST00000614895.4:c.4385+5028_4385+5044delinsTCTTCCTCTTCCTCCTC ENSP00000478512.1:n.4385+5028_4385+5044delinsTCTTCCTCTTCCTCCT...
ENST00000616114.4:c.4367+5028_4367+5044delinsTCTTCCTCTTCCTCCTC ENSP00000483745.1:n.4367+5028_4367+5044delinsTCTTCCTCTTCCTCCT...
ENST00000617051.4:c.5388_5404delinsTCTTCCTCTTCCTCCTC ENSP00000484703.1:p.Pro1796=
ENST00000617271.4:c.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC ENSP00000478076.1:n.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCT...
ENST00000618301.4:c.594-4352_594-4336delinsTCTTCCTCTTCCTCCTC ENSP00000482780.1:n.594-4352_594-4336delinsTCTTCCTCTTCCTCCTC
ENST00000621708.4:c.4388+2771_4388+2787delinsTCTTCCTCTTCCTCCTC ENSP00000484454.1:n.4388+2771_4388+2787delinsTCTTCCTCTTCCTCCT...
ENST00000622048.4:c.5160_5176delinsTCTTCCTCTTCCTCCTC ENSP00000482329.1:p.Pro1720=
NM_001142763.1:c.5382_5398delinsTCTTCCTCTTCCTCCTC NP_001136235.1:p.Pro1794=
NM_001142764.1:c.5367_5383delinsTCTTCCTCTTCCTCCTC NP_001136236.1:p.Pro1789=
NM_001142765.1:c.5154_5170delinsTCTTCCTCTTCCTCCTC NP_001136237.1:p.Pro1718=
NM_001142766.1:c.5352_5368delinsTCTTCCTCTTCCTCCTC NP_001136238.1:p.Pro1784=
NM_001142767.1:c.5241_5257delinsTCTTCCTCTTCCTCCTC NP_001136239.1:p.Pro1747=
NM_001142768.1:c.5301_5317delinsTCTTCCTCTTCCTCCTC NP_001136240.1:p.Pro1767=
NM_001142769.1:c.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCTC NP_001136241.1:n.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCTC
NM_001142770.1:c.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC NP_001136242.1:n.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC
NM_001142771.1:c.4388+2771_4388+2787delinsTCTTCCTCTTCCTCCTC NP_001136243.1:n.4388+2771_4388+2787delinsTCTTCCTCTTCCTCCTC
NM_001142772.1:c.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC NP_001136244.1:n.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC
NM_001142773.1:c.5292_5308delinsTCTTCCTCTTCCTCCTC NP_001136245.1:p.Pro1764=
NM_033056.3:c.5361_5377delinsTCTTCCTCTTCCTCCTC NP_149045.3:p.Pro1787=
NM_001142769.2:c.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCTC NP_001136241.1:n.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCTC
NM_001142770.2:c.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC NP_001136242.1:n.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC
NM_001354404.1:c.5295_5311delinsTCTTCCTCTTCCTCCTC NP_001341333.1:p.Pro1765=
NM_001354411.1:c.4388+5028_4388+5044delinsTCTTCCTCTTCCTCCTC NP_001341340.1:n.4388+5028_4388+5044delinsTCTTCCTCTTCCTCCTC
NM_001354420.1:c.4367+5028_4367+5044delinsTCTTCCTCTTCCTCCTC NP_001341349.1:n.4367+5028_4367+5044delinsTCTTCCTCTTCCTCCTC
NM_001354429.1:c.4368-4352_4368-4336delinsTCTTCCTCTTCCTCCTC NP_001341358.1:n.4368-4352_4368-4336delinsTCTTCCTCTTCCTCCTC
XM_017016573.2:c.4388+2771_4388+2787delinsTCTTCCTCTTCCTCCTC XP_016872062.1:n.4388+2771_4388+2787delinsTCTTCCTCTTCCTCCTC
XR_001747192.2:n.6374_6390delinsTCTTCCTCTTCCTCCTC
XR_001747193.2:n.6365_6381delinsTCTTCCTCTTCCTCCTC
NM_001142763.2:c.5382_5398delinsTCTTCCTCTTCCTCCTC NP_001136235.1:p.Pro1794=
NM_001142764.2:c.5367_5383delinsTCTTCCTCTTCCTCCTC NP_001136236.1:p.Pro1789=
NM_001142765.2:c.5154_5170delinsTCTTCCTCTTCCTCCTC NP_001136237.1:p.Pro1718=
NM_001142766.2:c.5352_5368delinsTCTTCCTCTTCCTCCTC NP_001136238.1:p.Pro1784=
NM_001142768.2:c.5301_5317delinsTCTTCCTCTTCCTCCTC NP_001136240.1:p.Pro1767=
NM_001142769.3:c.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCTC NP_001136241.1:n.4409+2771_4409+2787delinsTCTTCCTCTTCCTCCTC
NM_001142770.3:c.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC NP_001136242.1:n.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC
NM_001142771.2:c.4388+2771_4388+2787delinsTCTTCCTCTTCCTCCTC NP_001136243.1:n.4388+2771_4388+2787delinsTCTTCCTCTTCCTCCTC
NM_001142772.2:c.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC NP_001136244.1:n.4373+2771_4373+2787delinsTCTTCCTCTTCCTCCTC
NM_001142773.2:c.5292_5308delinsTCTTCCTCTTCCTCCTC NP_001136245.1:p.Pro1764=
NM_001354411.2:c.4388+5028_4388+5044delinsTCTTCCTCTTCCTCCTC NP_001341340.1:n.4388+5028_4388+5044delinsTCTTCCTCTTCCTCCTC
NM_001354420.2:c.4367+5028_4367+5044delinsTCTTCCTCTTCCTCCTC NP_001341349.1:n.4367+5028_4367+5044delinsTCTTCCTCTTCCTCCTC
NM_001354429.2:c.4368-4352_4368-4336delinsTCTTCCTCTTCCTCCTC NP_001341358.1:n.4368-4352_4368-4336delinsTCTTCCTCTTCCTCCTC
NM_033056.4:c.5361_5377delinsTCTTCCTCTTCCTCCTC MANE Plus Clinical NP_149045.3:p.Pro1787=
NM_001142767.2:c.5241_5257delinsTCTTCCTCTTCCTCCTC NP_001136239.1:p.Pro1747=
NM_001354404.2:c.5295_5311delinsTCTTCCTCTTCCTCCTC NP_001341333.1:p.Pro1765=
NM_001384140.1:c.4368-2135_4368-2119delinsTCTTCCTCTTCCTCCTC MANE Select NP_001371069.1:n.4368-2135_4368-2119delinsTCTTCCTCTTCCTCCTC