Canonical Allele Identifier: CA1910738877
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822439_53822448delinsCAGGAGCAGG , CM000672.2:g.53822439_53822448delinsCAGGAGCAGG GRCh38
NC_000010.10:g.55582199_55582208delinsCAGGAGCAGG , CM000672.1:g.55582199_55582208delinsCAGGAGCAGG GRCh37
NC_000010.9:g.55252205_55252214delinsCAGGAGCAGG NCBI36
NG_009191.2:g.983844_983853delinsCCTGCTCCTG
NG_009191.3:g.1811735_1811744delinsCCTGCTCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2688_4409+2697delinsCCTGCTCCTG ENSP00000482794.1:n.4409+2688_4409+2697delinsCCTGCTCCTG
ENST00000320301.11:c.5278_5287delinsCCTGCTCCTG MANE Plus Clinical ENSP00000322604.6:p.Pro1760=
ENST00000395445.6:c.4388+4945_4388+4954delinsCCTGCTCCTG ENSP00000378832.2:n.4388+4945_4388+4954delinsCCTGCTCCTG
ENST00000613657.5:c.4409+2688_4409+2697delinsCCTGCTCCTG ENSP00000482794.1:n.4409+2688_4409+2697delinsCCTGCTCCTG
ENST00000642496.1:c.3227-2218_3227-2209delinsCCTGCTCCTG
ENST00000644397.2:c.4368-2218_4368-2209delinsCCTGCTCCTG MANE Select ENSP00000495195.1:n.4368-2218_4368-2209delinsCCTGCTCCTG
ENST00000320301.10:c.5278_5287delinsCCTGCTCCTG ENSP00000322604.6:p.Pro1760=
ENST00000361849.7:c.5284_5293delinsCCTGCTCCTG ENSP00000354950.3:p.Pro1762=
ENST00000373956.7:c.*3233_*3242delinsCCTGCTCCTG ENSP00000363067.4:n.*3233_*3242delinsCCTGCTCCTG
ENST00000373957.7:c.5299_5308delinsCCTGCTCCTG ENSP00000363068.4:p.Pro1767=
ENST00000373965.6:c.4373+2688_4373+2697delinsCCTGCTCCTG ENSP00000363076.3:n.4373+2688_4373+2697delinsCCTGCTCCTG
ENST00000395430.5:c.5269_5278delinsCCTGCTCCTG ENSP00000378818.1:p.Pro1757=
ENST00000395432.6:c.5158_5167delinsCCTGCTCCTG ENSP00000378820.2:p.Pro1720=
ENST00000395433.5:c.5209_5218delinsCCTGCTCCTG ENSP00000378821.1:p.Pro1737=
ENST00000395438.5:c.4371+4944_4371+4953delinsCCTGCTCCTG ENSP00000378826.2:n.4371+4944_4371+4953delinsCCTGCTCCTG
ENST00000395440.5:c.1306-12902_1306-12893delinsCCTGCTCCTG ENSP00000378827.1:n.1306-12902_1306-12893delinsCCTGCTCCTG
ENST00000395442.5:c.1099-12902_1099-12893delinsCCTGCTCCTG ENSP00000378829.1:n.1099-12902_1099-12893delinsCCTGCTCCTG
ENST00000395445.5:c.4388+4945_4388+4954delinsCCTGCTCCTG ENSP00000378832.2:n.4388+4945_4388+4954delinsCCTGCTCCTG
ENST00000395446.5:c.2092-12902_2092-12893delinsCCTGCTCCTG ENSP00000378833.1:n.2092-12902_2092-12893delinsCCTGCTCCTG
ENST00000409834.5:c.3206+2688_3206+2697delinsCCTGCTCCTG ENSP00000386693.1:n.3206+2688_3206+2697delinsCCTGCTCCTG
ENST00000414367.5:c.*447+4945_*447+4954delinsCCTGCTCCTG ENSP00000412531.1:n.*447+4945_*447+4954delinsCCTGCTCCTG
ENST00000414778.5:c.4370+4945_4370+4954delinsCCTGCTCCTG ENSP00000410304.2:n.4370+4945_4370+4954delinsCCTGCTCCTG
ENST00000437009.5:c.5071_5080delinsCCTGCTCCTG ENSP00000412628.2:p.Pro1691=
ENST00000448885.5:c.*3239_*3248delinsCCTGCTCCTG ENSP00000412320.1:n.*3239_*3248delinsCCTGCTCCTG
ENST00000463095.2:n.2297_2306delinsCCTGCTCCTG
ENST00000495484.5:c.462-4435_462-4426delinsCCTGCTCCTG ENSP00000480780.1:n.462-4435_462-4426delinsCCTGCTCCTG
ENST00000612394.4:c.4406+4945_4406+4954delinsCCTGCTCCTG ENSP00000482921.1:n.4406+4945_4406+4954delinsCCTGCTCCTG
ENST00000613657.4:c.4409+2688_4409+2697delinsCCTGCTCCTG ENSP00000482794.1:n.4409+2688_4409+2697delinsCCTGCTCCTG
ENST00000614895.4:c.4385+4945_4385+4954delinsCCTGCTCCTG ENSP00000478512.1:n.4385+4945_4385+4954delinsCCTGCTCCTG
ENST00000616114.4:c.4367+4945_4367+4954delinsCCTGCTCCTG ENSP00000483745.1:n.4367+4945_4367+4954delinsCCTGCTCCTG
ENST00000617051.4:c.5305_5314delinsCCTGCTCCTG ENSP00000484703.1:p.Pro1769=
ENST00000617271.4:c.4373+2688_4373+2697delinsCCTGCTCCTG ENSP00000478076.1:n.4373+2688_4373+2697delinsCCTGCTCCTG
ENST00000618301.4:c.594-4435_594-4426delinsCCTGCTCCTG ENSP00000482780.1:n.594-4435_594-4426delinsCCTGCTCCTG
ENST00000621708.4:c.4388+2688_4388+2697delinsCCTGCTCCTG ENSP00000484454.1:n.4388+2688_4388+2697delinsCCTGCTCCTG
ENST00000622048.4:c.5077_5086delinsCCTGCTCCTG ENSP00000482329.1:p.Pro1693=
NM_001142763.1:c.5299_5308delinsCCTGCTCCTG NP_001136235.1:p.Pro1767=
NM_001142764.1:c.5284_5293delinsCCTGCTCCTG NP_001136236.1:p.Pro1762=
NM_001142765.1:c.5071_5080delinsCCTGCTCCTG NP_001136237.1:p.Pro1691=
NM_001142766.1:c.5269_5278delinsCCTGCTCCTG NP_001136238.1:p.Pro1757=
NM_001142767.1:c.5158_5167delinsCCTGCTCCTG NP_001136239.1:p.Pro1720=
NM_001142768.1:c.5218_5227delinsCCTGCTCCTG NP_001136240.1:p.Pro1740=
NM_001142769.1:c.4409+2688_4409+2697delinsCCTGCTCCTG NP_001136241.1:n.4409+2688_4409+2697delinsCCTGCTCCTG
NM_001142770.1:c.4373+2688_4373+2697delinsCCTGCTCCTG NP_001136242.1:n.4373+2688_4373+2697delinsCCTGCTCCTG
NM_001142771.1:c.4388+2688_4388+2697delinsCCTGCTCCTG NP_001136243.1:n.4388+2688_4388+2697delinsCCTGCTCCTG
NM_001142772.1:c.4373+2688_4373+2697delinsCCTGCTCCTG NP_001136244.1:n.4373+2688_4373+2697delinsCCTGCTCCTG
NM_001142773.1:c.5209_5218delinsCCTGCTCCTG NP_001136245.1:p.Pro1737=
NM_033056.3:c.5278_5287delinsCCTGCTCCTG NP_149045.3:p.Pro1760=
NM_001142769.2:c.4409+2688_4409+2697delinsCCTGCTCCTG NP_001136241.1:n.4409+2688_4409+2697delinsCCTGCTCCTG
NM_001142770.2:c.4373+2688_4373+2697delinsCCTGCTCCTG NP_001136242.1:n.4373+2688_4373+2697delinsCCTGCTCCTG
NM_001354404.1:c.5212_5221delinsCCTGCTCCTG NP_001341333.1:p.Pro1738=
NM_001354411.1:c.4388+4945_4388+4954delinsCCTGCTCCTG NP_001341340.1:n.4388+4945_4388+4954delinsCCTGCTCCTG
NM_001354420.1:c.4367+4945_4367+4954delinsCCTGCTCCTG NP_001341349.1:n.4367+4945_4367+4954delinsCCTGCTCCTG
NM_001354429.1:c.4368-4435_4368-4426delinsCCTGCTCCTG NP_001341358.1:n.4368-4435_4368-4426delinsCCTGCTCCTG
XM_017016573.2:c.4388+2688_4388+2697delinsCCTGCTCCTG XP_016872062.1:n.4388+2688_4388+2697delinsCCTGCTCCTG
XR_001747192.2:n.6291_6300delinsCCTGCTCCTG
XR_001747193.2:n.6282_6291delinsCCTGCTCCTG
NM_001142763.2:c.5299_5308delinsCCTGCTCCTG NP_001136235.1:p.Pro1767=
NM_001142764.2:c.5284_5293delinsCCTGCTCCTG NP_001136236.1:p.Pro1762=
NM_001142765.2:c.5071_5080delinsCCTGCTCCTG NP_001136237.1:p.Pro1691=
NM_001142766.2:c.5269_5278delinsCCTGCTCCTG NP_001136238.1:p.Pro1757=
NM_001142768.2:c.5218_5227delinsCCTGCTCCTG NP_001136240.1:p.Pro1740=
NM_001142769.3:c.4409+2688_4409+2697delinsCCTGCTCCTG NP_001136241.1:n.4409+2688_4409+2697delinsCCTGCTCCTG
NM_001142770.3:c.4373+2688_4373+2697delinsCCTGCTCCTG NP_001136242.1:n.4373+2688_4373+2697delinsCCTGCTCCTG
NM_001142771.2:c.4388+2688_4388+2697delinsCCTGCTCCTG NP_001136243.1:n.4388+2688_4388+2697delinsCCTGCTCCTG
NM_001142772.2:c.4373+2688_4373+2697delinsCCTGCTCCTG NP_001136244.1:n.4373+2688_4373+2697delinsCCTGCTCCTG
NM_001142773.2:c.5209_5218delinsCCTGCTCCTG NP_001136245.1:p.Pro1737=
NM_001354411.2:c.4388+4945_4388+4954delinsCCTGCTCCTG NP_001341340.1:n.4388+4945_4388+4954delinsCCTGCTCCTG
NM_001354420.2:c.4367+4945_4367+4954delinsCCTGCTCCTG NP_001341349.1:n.4367+4945_4367+4954delinsCCTGCTCCTG
NM_001354429.2:c.4368-4435_4368-4426delinsCCTGCTCCTG NP_001341358.1:n.4368-4435_4368-4426delinsCCTGCTCCTG
NM_033056.4:c.5278_5287delinsCCTGCTCCTG MANE Plus Clinical NP_149045.3:p.Pro1760=
NM_001142767.2:c.5158_5167delinsCCTGCTCCTG NP_001136239.1:p.Pro1720=
NM_001354404.2:c.5212_5221delinsCCTGCTCCTG NP_001341333.1:p.Pro1738=
NM_001384140.1:c.4368-2218_4368-2209delinsCCTGCTCCTG MANE Select NP_001371069.1:n.4368-2218_4368-2209delinsCCTGCTCCTG