Canonical Allele Identifier: CA2609212711
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823281_53823328dup , CM000672.2:g.53823281_53823328dup GRCh38
NC_000010.10:g.55583041_55583088dup , CM000672.1:g.55583041_55583088dup GRCh37
NC_000010.9:g.55253047_55253094dup NCBI36
NG_009191.2:g.982964_983011dup
NG_009191.3:g.1810855_1810902dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1808_4409+1855dup ENSP00000482794.1:n.4409+1808_4409+1855dup
ENST00000320301.11:c.4398_4445dup MANE Plus Clinical ENSP00000322604.6:p.Val1482_Met1483insArgGlyAsnAsnSerValSerGl...
ENST00000395445.6:c.4388+4065_4388+4112dup ENSP00000378832.2:n.4388+4065_4388+4112dup
ENST00000613657.5:c.4409+1808_4409+1855dup ENSP00000482794.1:n.4409+1808_4409+1855dup
ENST00000642496.1:c.3227-3098_3227-3051dup
ENST00000644397.2:c.4368-3098_4368-3051dup MANE Select ENSP00000495195.1:n.4368-3098_4368-3051dup
ENST00000320301.10:c.4398_4445dup ENSP00000322604.6:p.Val1482_Met1483insArgGlyAsnAsnSerValSerGl...
ENST00000361849.7:c.4404_4451dup ENSP00000354950.3:p.Val1484_Met1485insArgGlyAsnAsnSerValSerGl...
ENST00000373956.7:c.*2353_*2400dup ENSP00000363067.4:n.*2353_*2400dup
ENST00000373957.7:c.4419_4466dup ENSP00000363068.4:p.Val1489_Met1490insArgGlyAsnAsnSerValSerGl...
ENST00000373965.6:c.4373+1808_4373+1855dup ENSP00000363076.3:n.4373+1808_4373+1855dup
ENST00000395430.5:c.4389_4436dup ENSP00000378818.1:p.Val1479_Met1480insArgGlyAsnAsnSerValSerGl...
ENST00000395432.6:c.4278_4325dup ENSP00000378820.2:p.Val1442_Met1443insArgGlyAsnAsnSerValSerGl...
ENST00000395433.5:c.4329_4376dup ENSP00000378821.1:p.Val1459_Met1460insArgGlyAsnAsnSerValSerGl...
ENST00000395438.5:c.4371+4064_4371+4111dup ENSP00000378826.2:n.4371+4064_4371+4111dup
ENST00000395440.5:c.1306-13782_1306-13735dup ENSP00000378827.1:n.1306-13782_1306-13735dup
ENST00000395442.5:c.1099-13782_1099-13735dup ENSP00000378829.1:n.1099-13782_1099-13735dup
ENST00000395445.5:c.4388+4065_4388+4112dup ENSP00000378832.2:n.4388+4065_4388+4112dup
ENST00000395446.5:c.2092-13782_2092-13735dup ENSP00000378833.1:n.2092-13782_2092-13735dup
ENST00000409834.5:c.3206+1808_3206+1855dup ENSP00000386693.1:n.3206+1808_3206+1855dup
ENST00000414367.5:c.*447+4065_*447+4112dup ENSP00000412531.1:n.*447+4065_*447+4112dup
ENST00000414778.5:c.4370+4065_4370+4112dup ENSP00000410304.2:n.4370+4065_4370+4112dup
ENST00000437009.5:c.4191_4238dup ENSP00000412628.2:p.Val1413_Met1414insArgGlyAsnAsnSerValSerGl...
ENST00000448885.5:c.*2359_*2406dup ENSP00000412320.1:n.*2359_*2406dup
ENST00000463095.2:n.1417_1464dup
ENST00000495484.5:c.462-5315_462-5268dup ENSP00000480780.1:n.462-5315_462-5268dup
ENST00000612394.4:c.4406+4065_4406+4112dup ENSP00000482921.1:n.4406+4065_4406+4112dup
ENST00000613657.4:c.4409+1808_4409+1855dup ENSP00000482794.1:n.4409+1808_4409+1855dup
ENST00000614895.4:c.4385+4065_4385+4112dup ENSP00000478512.1:n.4385+4065_4385+4112dup
ENST00000616114.4:c.4367+4065_4367+4112dup ENSP00000483745.1:n.4367+4065_4367+4112dup
ENST00000617051.4:c.4425_4472dup ENSP00000484703.1:p.Val1491_Met1492insArgGlyAsnAsnSerValSerGl...
ENST00000617271.4:c.4373+1808_4373+1855dup ENSP00000478076.1:n.4373+1808_4373+1855dup
ENST00000618301.4:c.593+4065_593+4112dup ENSP00000482780.1:n.593+4065_593+4112dup
ENST00000621708.4:c.4388+1808_4388+1855dup ENSP00000484454.1:n.4388+1808_4388+1855dup
ENST00000622048.4:c.4197_4244dup ENSP00000482329.1:p.Val1415_Met1416insArgGlyAsnAsnSerValSerGl...
NM_001142763.1:c.4419_4466dup NP_001136235.1:p.Val1489_Met1490insArgGlyAsnAsnSerValSerGluAs...
NM_001142764.1:c.4404_4451dup NP_001136236.1:p.Val1484_Met1485insArgGlyAsnAsnSerValSerGluAs...
NM_001142765.1:c.4191_4238dup NP_001136237.1:p.Val1413_Met1414insArgGlyAsnAsnSerValSerGluAs...
NM_001142766.1:c.4389_4436dup NP_001136238.1:p.Val1479_Met1480insArgGlyAsnAsnSerValSerGluAs...
NM_001142767.1:c.4278_4325dup NP_001136239.1:p.Val1442_Met1443insArgGlyAsnAsnSerValSerGluAs...
NM_001142768.1:c.4338_4385dup NP_001136240.1:p.Val1462_Met1463insArgGlyAsnAsnSerValSerGluAs...
NM_001142769.1:c.4409+1808_4409+1855dup NP_001136241.1:n.4409+1808_4409+1855dup
NM_001142770.1:c.4373+1808_4373+1855dup NP_001136242.1:n.4373+1808_4373+1855dup
NM_001142771.1:c.4388+1808_4388+1855dup NP_001136243.1:n.4388+1808_4388+1855dup
NM_001142772.1:c.4373+1808_4373+1855dup NP_001136244.1:n.4373+1808_4373+1855dup
NM_001142773.1:c.4329_4376dup NP_001136245.1:p.Val1459_Met1460insArgGlyAsnAsnSerValSerGluAs...
NM_033056.3:c.4398_4445dup NP_149045.3:p.Val1482_Met1483insArgGlyAsnAsnSerValSerGluAspAr...
NM_001142769.2:c.4409+1808_4409+1855dup NP_001136241.1:n.4409+1808_4409+1855dup
NM_001142770.2:c.4373+1808_4373+1855dup NP_001136242.1:n.4373+1808_4373+1855dup
NM_001354404.1:c.4332_4379dup NP_001341333.1:p.Val1460_Met1461insArgGlyAsnAsnSerValSerGluAs...
NM_001354411.1:c.4388+4065_4388+4112dup NP_001341340.1:n.4388+4065_4388+4112dup
NM_001354420.1:c.4367+4065_4367+4112dup NP_001341349.1:n.4367+4065_4367+4112dup
NM_001354429.1:c.4367+4065_4367+4112dup NP_001341358.1:n.4367+4065_4367+4112dup
XM_017016573.2:c.4388+1808_4388+1855dup XP_016872062.1:n.4388+1808_4388+1855dup
XR_001747192.2:n.5411_5458dup
XR_001747193.2:n.5402_5449dup
NM_001142763.2:c.4419_4466dup NP_001136235.1:p.Val1489_Met1490insArgGlyAsnAsnSerValSerGluAs...
NM_001142764.2:c.4404_4451dup NP_001136236.1:p.Val1484_Met1485insArgGlyAsnAsnSerValSerGluAs...
NM_001142765.2:c.4191_4238dup NP_001136237.1:p.Val1413_Met1414insArgGlyAsnAsnSerValSerGluAs...
NM_001142766.2:c.4389_4436dup NP_001136238.1:p.Val1479_Met1480insArgGlyAsnAsnSerValSerGluAs...
NM_001142768.2:c.4338_4385dup NP_001136240.1:p.Val1462_Met1463insArgGlyAsnAsnSerValSerGluAs...
NM_001142769.3:c.4409+1808_4409+1855dup NP_001136241.1:n.4409+1808_4409+1855dup
NM_001142770.3:c.4373+1808_4373+1855dup NP_001136242.1:n.4373+1808_4373+1855dup
NM_001142771.2:c.4388+1808_4388+1855dup NP_001136243.1:n.4388+1808_4388+1855dup
NM_001142772.2:c.4373+1808_4373+1855dup NP_001136244.1:n.4373+1808_4373+1855dup
NM_001142773.2:c.4329_4376dup NP_001136245.1:p.Val1459_Met1460insArgGlyAsnAsnSerValSerGluAs...
NM_001354411.2:c.4388+4065_4388+4112dup NP_001341340.1:n.4388+4065_4388+4112dup
NM_001354420.2:c.4367+4065_4367+4112dup NP_001341349.1:n.4367+4065_4367+4112dup
NM_001354429.2:c.4367+4065_4367+4112dup NP_001341358.1:n.4367+4065_4367+4112dup
NM_033056.4:c.4398_4445dup MANE Plus Clinical NP_149045.3:p.Val1482_Met1483insArgGlyAsnAsnSerValSerGluAspAr...
NM_001142767.2:c.4278_4325dup NP_001136239.1:p.Val1442_Met1443insArgGlyAsnAsnSerValSerGluAs...
NM_001354404.2:c.4332_4379dup NP_001341333.1:p.Val1460_Met1461insArgGlyAsnAsnSerValSerGluAs...
NM_001384140.1:c.4368-3098_4368-3051dup MANE Select NP_001371069.1:n.4368-3098_4368-3051dup