Canonical Allele Identifier: CA912970195
Gene: PCDH15 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.55582217dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822458dup , CM000672.2:g.53822458dup GRCh38
NC_000010.10:g.55582218dup , CM000672.1:g.55582218dup GRCh37
NC_000010.9:g.55252224dup NCBI36
NG_009191.2:g.983835dup
NG_009191.3:g.1811726dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2679dup ENSP00000482794.1:n.4409+2679dup
ENST00000320301.11:c.5269dup MANE Plus Clinical ENSP00000322604.6:p.Ser1757PhefsTer14
ENST00000395445.6:c.4388+4936dup ENSP00000378832.2:n.4388+4936dup
ENST00000613657.5:c.4409+2679dup ENSP00000482794.1:n.4409+2679dup
ENST00000642496.1:c.3227-2227dup
ENST00000644397.2:c.4368-2227dup MANE Select ENSP00000495195.1:n.4368-2227dup
ENST00000320301.10:c.5269dup ENSP00000322604.6:p.Ser1757PhefsTer14
ENST00000361849.7:c.5275dup ENSP00000354950.3:p.Ser1759PhefsTer14
ENST00000373956.7:c.*3224dup ENSP00000363067.4:n.*3224dup
ENST00000373957.7:c.5290dup ENSP00000363068.4:p.Ser1764PhefsTer14
ENST00000373965.6:c.4373+2679dup ENSP00000363076.3:n.4373+2679dup
ENST00000395430.5:c.5260dup ENSP00000378818.1:p.Ser1754PhefsTer14
ENST00000395432.6:c.5149dup ENSP00000378820.2:p.Ser1717PhefsTer14
ENST00000395433.5:c.5200dup ENSP00000378821.1:p.Ser1734PhefsTer14
ENST00000395438.5:c.4371+4935dup ENSP00000378826.2:n.4371+4935dup
ENST00000395440.5:c.1306-12911dup ENSP00000378827.1:n.1306-12911dup
ENST00000395442.5:c.1099-12911dup ENSP00000378829.1:n.1099-12911dup
ENST00000395445.5:c.4388+4936dup ENSP00000378832.2:n.4388+4936dup
ENST00000395446.5:c.2092-12911dup ENSP00000378833.1:n.2092-12911dup
ENST00000409834.5:c.3206+2679dup ENSP00000386693.1:n.3206+2679dup
ENST00000414367.5:c.*447+4936dup ENSP00000412531.1:n.*447+4936dup
ENST00000414778.5:c.4370+4936dup ENSP00000410304.2:n.4370+4936dup
ENST00000437009.5:c.5062dup ENSP00000412628.2:p.Ser1688PhefsTer14
ENST00000448885.5:c.*3230dup ENSP00000412320.1:n.*3230dup
ENST00000463095.2:n.2288dup
ENST00000495484.5:c.462-4444dup ENSP00000480780.1:n.462-4444dup
ENST00000612394.4:c.4406+4936dup ENSP00000482921.1:n.4406+4936dup
ENST00000613657.4:c.4409+2679dup ENSP00000482794.1:n.4409+2679dup
ENST00000614895.4:c.4385+4936dup ENSP00000478512.1:n.4385+4936dup
ENST00000616114.4:c.4367+4936dup ENSP00000483745.1:n.4367+4936dup
ENST00000617051.4:c.5296dup ENSP00000484703.1:p.Ser1766PhefsTer14
ENST00000617271.4:c.4373+2679dup ENSP00000478076.1:n.4373+2679dup
ENST00000618301.4:c.594-4444dup ENSP00000482780.1:n.594-4444dup
ENST00000621708.4:c.4388+2679dup ENSP00000484454.1:n.4388+2679dup
ENST00000622048.4:c.5068dup ENSP00000482329.1:p.Ser1690PhefsTer14
NM_001142763.1:c.5290dup NP_001136235.1:p.Ser1764PhefsTer14
NM_001142764.1:c.5275dup NP_001136236.1:p.Ser1759PhefsTer14
NM_001142765.1:c.5062dup NP_001136237.1:p.Ser1688PhefsTer14
NM_001142766.1:c.5260dup NP_001136238.1:p.Ser1754PhefsTer14
NM_001142767.1:c.5149dup NP_001136239.1:p.Ser1717PhefsTer14
NM_001142768.1:c.5209dup NP_001136240.1:p.Ser1737PhefsTer14
NM_001142769.1:c.4409+2679dup NP_001136241.1:n.4409+2679dup
NM_001142770.1:c.4373+2679dup NP_001136242.1:n.4373+2679dup
NM_001142771.1:c.4388+2679dup NP_001136243.1:n.4388+2679dup
NM_001142772.1:c.4373+2679dup NP_001136244.1:n.4373+2679dup
NM_001142773.1:c.5200dup NP_001136245.1:p.Ser1734PhefsTer14
NM_033056.3:c.5269dup NP_149045.3:p.Ser1757PhefsTer14
NM_001142769.2:c.4409+2679dup NP_001136241.1:n.4409+2679dup
NM_001142770.2:c.4373+2679dup NP_001136242.1:n.4373+2679dup
NM_001354404.1:c.5203dup NP_001341333.1:p.Ser1735PhefsTer14
NM_001354411.1:c.4388+4936dup NP_001341340.1:n.4388+4936dup
NM_001354420.1:c.4367+4936dup NP_001341349.1:n.4367+4936dup
NM_001354429.1:c.4368-4444dup NP_001341358.1:n.4368-4444dup
XM_017016573.2:c.4388+2679dup XP_016872062.1:n.4388+2679dup
XR_001747192.2:n.6282dup
XR_001747193.2:n.6273dup
NM_001142763.2:c.5290dup NP_001136235.1:p.Ser1764PhefsTer14
NM_001142764.2:c.5275dup NP_001136236.1:p.Ser1759PhefsTer14
NM_001142765.2:c.5062dup NP_001136237.1:p.Ser1688PhefsTer14
NM_001142766.2:c.5260dup NP_001136238.1:p.Ser1754PhefsTer14
NM_001142768.2:c.5209dup NP_001136240.1:p.Ser1737PhefsTer14
NM_001142769.3:c.4409+2679dup NP_001136241.1:n.4409+2679dup
NM_001142770.3:c.4373+2679dup NP_001136242.1:n.4373+2679dup
NM_001142771.2:c.4388+2679dup NP_001136243.1:n.4388+2679dup
NM_001142772.2:c.4373+2679dup NP_001136244.1:n.4373+2679dup
NM_001142773.2:c.5200dup NP_001136245.1:p.Ser1734PhefsTer14
NM_001354411.2:c.4388+4936dup NP_001341340.1:n.4388+4936dup
NM_001354420.2:c.4367+4936dup NP_001341349.1:n.4367+4936dup
NM_001354429.2:c.4368-4444dup NP_001341358.1:n.4368-4444dup
NM_033056.4:c.5269dup MANE Plus Clinical NP_149045.3:p.Ser1757PhefsTer14
NM_001142767.2:c.5149dup NP_001136239.1:p.Ser1717PhefsTer14
NM_001354404.2:c.5203dup NP_001341333.1:p.Ser1735PhefsTer14
NM_001384140.1:c.4368-2227dup MANE Select NP_001371069.1:n.4368-2227dup