Canonical Allele Identifier: CA1910738270
Gene: PCDH15 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822346_53822382delinsTAGGAGGAGGAAGAGGAAGAGGGATAGAAGGAGGAGA , CM000672.2:g.53822346_53822382delinsTAGGAGGAGGAAGAGGAAGAGGGATAGAAGGAGGAGA GRCh38
NC_000010.10:g.55582106_55582142delinsTAGGAGGAGGAAGAGGAAGAGGGATAGAAGGAGGAGA , CM000672.1:g.55582106_55582142delinsTAGGAGGAGGAAGAGGAAGAGGGATAGAAGGAGGAGA GRCh37
NC_000010.9:g.55252112_55252148delinsTAGGAGGAGGAAGAGGAAGAGGGATAGAAGGAGGAGA NCBI36
NG_009191.2:g.983910_983946delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA
NG_009191.3:g.1811801_1811837delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2754_4409+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000482794.1:n.4409+2754_4409+2790delinsTCTCCTCCTTCTATCC...
ENST00000320301.11:c.5344_5380delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA MANE Plus Clinical ENSP00000322604.6:p.Ser1782=
ENST00000395445.6:c.4388+5011_4388+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000378832.2:n.4388+5011_4388+5047delinsTCTCCTCCTTCTATCC...
ENST00000613657.5:c.4409+2754_4409+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000482794.1:n.4409+2754_4409+2790delinsTCTCCTCCTTCTATCC...
ENST00000642496.1:c.3227-2152_3227-2116delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA
ENST00000644397.2:c.4368-2152_4368-2116delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA MANE Select ENSP00000495195.1:n.4368-2152_4368-2116delinsTCTCCTCCTTCTATCC...
ENST00000320301.10:c.5344_5380delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000322604.6:p.Ser1782=
ENST00000361849.7:c.5350_5386delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000354950.3:p.Ser1784=
ENST00000373956.7:c.*3299_*3335delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000363067.4:n.*3299_*3335delinsTCTCCTCCTTCTATCCCTCTTCCT...
ENST00000373957.7:c.5365_5401delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000363068.4:p.Ser1789=
ENST00000373965.6:c.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000363076.3:n.4373+2754_4373+2790delinsTCTCCTCCTTCTATCC...
ENST00000395430.5:c.5335_5371delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000378818.1:p.Ser1779=
ENST00000395432.6:c.5224_5260delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000378820.2:p.Ser1742=
ENST00000395433.5:c.5275_5311delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000378821.1:p.Ser1759=
ENST00000395438.5:c.4371+5010_4371+5046delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000378826.2:n.4371+5010_4371+5046delinsTCTCCTCCTTCTATCC...
ENST00000395440.5:c.1306-12836_1306-12800delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000378827.1:n.1306-12836_1306-12800delinsTCTCCTCCTTCTAT...
ENST00000395442.5:c.1099-12836_1099-12800delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000378829.1:n.1099-12836_1099-12800delinsTCTCCTCCTTCTAT...
ENST00000395445.5:c.4388+5011_4388+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000378832.2:n.4388+5011_4388+5047delinsTCTCCTCCTTCTATCC...
ENST00000395446.5:c.2092-12836_2092-12800delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000378833.1:n.2092-12836_2092-12800delinsTCTCCTCCTTCTAT...
ENST00000409834.5:c.3206+2754_3206+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000386693.1:n.3206+2754_3206+2790delinsTCTCCTCCTTCTATCC...
ENST00000414367.5:c.*447+5011_*447+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000412531.1:n.*447+5011_*447+5047delinsTCTCCTCCTTCTATCC...
ENST00000414778.5:c.4370+5011_4370+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000410304.2:n.4370+5011_4370+5047delinsTCTCCTCCTTCTATCC...
ENST00000437009.5:c.5137_5173delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000412628.2:p.Ser1713=
ENST00000448885.5:c.*3305_*3341delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000412320.1:n.*3305_*3341delinsTCTCCTCCTTCTATCCCTCTTCCT...
ENST00000463095.2:n.2363_2399delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA
ENST00000495484.5:c.462-4369_462-4333delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000480780.1:n.462-4369_462-4333delinsTCTCCTCCTTCTATCCCT...
ENST00000612394.4:c.4406+5011_4406+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000482921.1:n.4406+5011_4406+5047delinsTCTCCTCCTTCTATCC...
ENST00000613657.4:c.4409+2754_4409+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000482794.1:n.4409+2754_4409+2790delinsTCTCCTCCTTCTATCC...
ENST00000614895.4:c.4385+5011_4385+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000478512.1:n.4385+5011_4385+5047delinsTCTCCTCCTTCTATCC...
ENST00000616114.4:c.4367+5011_4367+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000483745.1:n.4367+5011_4367+5047delinsTCTCCTCCTTCTATCC...
ENST00000617051.4:c.5371_5407delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000484703.1:p.Ser1791=
ENST00000617271.4:c.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000478076.1:n.4373+2754_4373+2790delinsTCTCCTCCTTCTATCC...
ENST00000618301.4:c.594-4369_594-4333delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000482780.1:n.594-4369_594-4333delinsTCTCCTCCTTCTATCCCT...
ENST00000621708.4:c.4388+2754_4388+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000484454.1:n.4388+2754_4388+2790delinsTCTCCTCCTTCTATCC...
ENST00000622048.4:c.5143_5179delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA ENSP00000482329.1:p.Ser1715=
NM_001142763.1:c.5365_5401delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136235.1:p.Ser1789=
NM_001142764.1:c.5350_5386delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136236.1:p.Ser1784=
NM_001142765.1:c.5137_5173delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136237.1:p.Ser1713=
NM_001142766.1:c.5335_5371delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136238.1:p.Ser1779=
NM_001142767.1:c.5224_5260delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136239.1:p.Ser1742=
NM_001142768.1:c.5284_5320delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136240.1:p.Ser1762=
NM_001142769.1:c.4409+2754_4409+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136241.1:n.4409+2754_4409+2790delinsTCTCCTCCTTCTATCCCTC...
NM_001142770.1:c.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136242.1:n.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTC...
NM_001142771.1:c.4388+2754_4388+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136243.1:n.4388+2754_4388+2790delinsTCTCCTCCTTCTATCCCTC...
NM_001142772.1:c.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136244.1:n.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTC...
NM_001142773.1:c.5275_5311delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136245.1:p.Ser1759=
NM_033056.3:c.5344_5380delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_149045.3:p.Ser1782=
NM_001142769.2:c.4409+2754_4409+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136241.1:n.4409+2754_4409+2790delinsTCTCCTCCTTCTATCCCTC...
NM_001142770.2:c.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136242.1:n.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTC...
NM_001354404.1:c.5278_5314delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001341333.1:p.Ser1760=
NM_001354411.1:c.4388+5011_4388+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001341340.1:n.4388+5011_4388+5047delinsTCTCCTCCTTCTATCCCTC...
NM_001354420.1:c.4367+5011_4367+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001341349.1:n.4367+5011_4367+5047delinsTCTCCTCCTTCTATCCCTC...
NM_001354429.1:c.4368-4369_4368-4333delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001341358.1:n.4368-4369_4368-4333delinsTCTCCTCCTTCTATCCCTC...
XM_017016573.2:c.4388+2754_4388+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA XP_016872062.1:n.4388+2754_4388+2790delinsTCTCCTCCTTCTATCCCTC...
XR_001747192.2:n.6357_6393delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA
XR_001747193.2:n.6348_6384delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA
NM_001142763.2:c.5365_5401delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136235.1:p.Ser1789=
NM_001142764.2:c.5350_5386delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136236.1:p.Ser1784=
NM_001142765.2:c.5137_5173delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136237.1:p.Ser1713=
NM_001142766.2:c.5335_5371delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136238.1:p.Ser1779=
NM_001142768.2:c.5284_5320delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136240.1:p.Ser1762=
NM_001142769.3:c.4409+2754_4409+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136241.1:n.4409+2754_4409+2790delinsTCTCCTCCTTCTATCCCTC...
NM_001142770.3:c.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136242.1:n.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTC...
NM_001142771.2:c.4388+2754_4388+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136243.1:n.4388+2754_4388+2790delinsTCTCCTCCTTCTATCCCTC...
NM_001142772.2:c.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136244.1:n.4373+2754_4373+2790delinsTCTCCTCCTTCTATCCCTC...
NM_001142773.2:c.5275_5311delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136245.1:p.Ser1759=
NM_001354411.2:c.4388+5011_4388+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001341340.1:n.4388+5011_4388+5047delinsTCTCCTCCTTCTATCCCTC...
NM_001354420.2:c.4367+5011_4367+5047delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001341349.1:n.4367+5011_4367+5047delinsTCTCCTCCTTCTATCCCTC...
NM_001354429.2:c.4368-4369_4368-4333delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001341358.1:n.4368-4369_4368-4333delinsTCTCCTCCTTCTATCCCTC...
NM_033056.4:c.5344_5380delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA MANE Plus Clinical NP_149045.3:p.Ser1782=
NM_001142767.2:c.5224_5260delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001136239.1:p.Ser1742=
NM_001354404.2:c.5278_5314delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA NP_001341333.1:p.Ser1760=
NM_001384140.1:c.4368-2152_4368-2116delinsTCTCCTCCTTCTATCCCTCTTCCTCTTCCTCCTCCTA MANE Select NP_001371069.1:n.4368-2152_4368-2116delinsTCTCCTCCTTCTATCCCTC...
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