Canonical Allele Identifier: CA1910738435
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822370_53822379delinsTAGAAGGAGG , CM000672.2:g.53822370_53822379delinsTAGAAGGAGG GRCh38
NC_000010.10:g.55582130_55582139delinsTAGAAGGAGG , CM000672.1:g.55582130_55582139delinsTAGAAGGAGG GRCh37
NC_000010.9:g.55252136_55252145delinsTAGAAGGAGG NCBI36
NG_009191.2:g.983913_983922delinsCCTCCTTCTA
NG_009191.3:g.1811804_1811813delinsCCTCCTTCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2757_4409+2766delinsCCTCCTTCTA ENSP00000482794.1:n.4409+2757_4409+2766delinsCCTCCTTCTA
ENST00000320301.11:c.5347_5356delinsCCTCCTTCTA MANE Plus Clinical ENSP00000322604.6:p.Pro1783=
ENST00000395445.6:c.4388+5014_4388+5023delinsCCTCCTTCTA ENSP00000378832.2:n.4388+5014_4388+5023delinsCCTCCTTCTA
ENST00000613657.5:c.4409+2757_4409+2766delinsCCTCCTTCTA ENSP00000482794.1:n.4409+2757_4409+2766delinsCCTCCTTCTA
ENST00000642496.1:c.3227-2149_3227-2140delinsCCTCCTTCTA
ENST00000644397.2:c.4368-2149_4368-2140delinsCCTCCTTCTA MANE Select ENSP00000495195.1:n.4368-2149_4368-2140delinsCCTCCTTCTA
ENST00000320301.10:c.5347_5356delinsCCTCCTTCTA ENSP00000322604.6:p.Pro1783=
ENST00000361849.7:c.5353_5362delinsCCTCCTTCTA ENSP00000354950.3:p.Pro1785=
ENST00000373956.7:c.*3302_*3311delinsCCTCCTTCTA ENSP00000363067.4:n.*3302_*3311delinsCCTCCTTCTA
ENST00000373957.7:c.5368_5377delinsCCTCCTTCTA ENSP00000363068.4:p.Pro1790=
ENST00000373965.6:c.4373+2757_4373+2766delinsCCTCCTTCTA ENSP00000363076.3:n.4373+2757_4373+2766delinsCCTCCTTCTA
ENST00000395430.5:c.5338_5347delinsCCTCCTTCTA ENSP00000378818.1:p.Pro1780=
ENST00000395432.6:c.5227_5236delinsCCTCCTTCTA ENSP00000378820.2:p.Pro1743=
ENST00000395433.5:c.5278_5287delinsCCTCCTTCTA ENSP00000378821.1:p.Pro1760=
ENST00000395438.5:c.4371+5013_4371+5022delinsCCTCCTTCTA ENSP00000378826.2:n.4371+5013_4371+5022delinsCCTCCTTCTA
ENST00000395440.5:c.1306-12833_1306-12824delinsCCTCCTTCTA ENSP00000378827.1:n.1306-12833_1306-12824delinsCCTCCTTCTA
ENST00000395442.5:c.1099-12833_1099-12824delinsCCTCCTTCTA ENSP00000378829.1:n.1099-12833_1099-12824delinsCCTCCTTCTA
ENST00000395445.5:c.4388+5014_4388+5023delinsCCTCCTTCTA ENSP00000378832.2:n.4388+5014_4388+5023delinsCCTCCTTCTA
ENST00000395446.5:c.2092-12833_2092-12824delinsCCTCCTTCTA ENSP00000378833.1:n.2092-12833_2092-12824delinsCCTCCTTCTA
ENST00000409834.5:c.3206+2757_3206+2766delinsCCTCCTTCTA ENSP00000386693.1:n.3206+2757_3206+2766delinsCCTCCTTCTA
ENST00000414367.5:c.*447+5014_*447+5023delinsCCTCCTTCTA ENSP00000412531.1:n.*447+5014_*447+5023delinsCCTCCTTCTA
ENST00000414778.5:c.4370+5014_4370+5023delinsCCTCCTTCTA ENSP00000410304.2:n.4370+5014_4370+5023delinsCCTCCTTCTA
ENST00000437009.5:c.5140_5149delinsCCTCCTTCTA ENSP00000412628.2:p.Pro1714=
ENST00000448885.5:c.*3308_*3317delinsCCTCCTTCTA ENSP00000412320.1:n.*3308_*3317delinsCCTCCTTCTA
ENST00000463095.2:n.2366_2375delinsCCTCCTTCTA
ENST00000495484.5:c.462-4366_462-4357delinsCCTCCTTCTA ENSP00000480780.1:n.462-4366_462-4357delinsCCTCCTTCTA
ENST00000612394.4:c.4406+5014_4406+5023delinsCCTCCTTCTA ENSP00000482921.1:n.4406+5014_4406+5023delinsCCTCCTTCTA
ENST00000613657.4:c.4409+2757_4409+2766delinsCCTCCTTCTA ENSP00000482794.1:n.4409+2757_4409+2766delinsCCTCCTTCTA
ENST00000614895.4:c.4385+5014_4385+5023delinsCCTCCTTCTA ENSP00000478512.1:n.4385+5014_4385+5023delinsCCTCCTTCTA
ENST00000616114.4:c.4367+5014_4367+5023delinsCCTCCTTCTA ENSP00000483745.1:n.4367+5014_4367+5023delinsCCTCCTTCTA
ENST00000617051.4:c.5374_5383delinsCCTCCTTCTA ENSP00000484703.1:p.Pro1792=
ENST00000617271.4:c.4373+2757_4373+2766delinsCCTCCTTCTA ENSP00000478076.1:n.4373+2757_4373+2766delinsCCTCCTTCTA
ENST00000618301.4:c.594-4366_594-4357delinsCCTCCTTCTA ENSP00000482780.1:n.594-4366_594-4357delinsCCTCCTTCTA
ENST00000621708.4:c.4388+2757_4388+2766delinsCCTCCTTCTA ENSP00000484454.1:n.4388+2757_4388+2766delinsCCTCCTTCTA
ENST00000622048.4:c.5146_5155delinsCCTCCTTCTA ENSP00000482329.1:p.Pro1716=
NM_001142763.1:c.5368_5377delinsCCTCCTTCTA NP_001136235.1:p.Pro1790=
NM_001142764.1:c.5353_5362delinsCCTCCTTCTA NP_001136236.1:p.Pro1785=
NM_001142765.1:c.5140_5149delinsCCTCCTTCTA NP_001136237.1:p.Pro1714=
NM_001142766.1:c.5338_5347delinsCCTCCTTCTA NP_001136238.1:p.Pro1780=
NM_001142767.1:c.5227_5236delinsCCTCCTTCTA NP_001136239.1:p.Pro1743=
NM_001142768.1:c.5287_5296delinsCCTCCTTCTA NP_001136240.1:p.Pro1763=
NM_001142769.1:c.4409+2757_4409+2766delinsCCTCCTTCTA NP_001136241.1:n.4409+2757_4409+2766delinsCCTCCTTCTA
NM_001142770.1:c.4373+2757_4373+2766delinsCCTCCTTCTA NP_001136242.1:n.4373+2757_4373+2766delinsCCTCCTTCTA
NM_001142771.1:c.4388+2757_4388+2766delinsCCTCCTTCTA NP_001136243.1:n.4388+2757_4388+2766delinsCCTCCTTCTA
NM_001142772.1:c.4373+2757_4373+2766delinsCCTCCTTCTA NP_001136244.1:n.4373+2757_4373+2766delinsCCTCCTTCTA
NM_001142773.1:c.5278_5287delinsCCTCCTTCTA NP_001136245.1:p.Pro1760=
NM_033056.3:c.5347_5356delinsCCTCCTTCTA NP_149045.3:p.Pro1783=
NM_001142769.2:c.4409+2757_4409+2766delinsCCTCCTTCTA NP_001136241.1:n.4409+2757_4409+2766delinsCCTCCTTCTA
NM_001142770.2:c.4373+2757_4373+2766delinsCCTCCTTCTA NP_001136242.1:n.4373+2757_4373+2766delinsCCTCCTTCTA
NM_001354404.1:c.5281_5290delinsCCTCCTTCTA NP_001341333.1:p.Pro1761=
NM_001354411.1:c.4388+5014_4388+5023delinsCCTCCTTCTA NP_001341340.1:n.4388+5014_4388+5023delinsCCTCCTTCTA
NM_001354420.1:c.4367+5014_4367+5023delinsCCTCCTTCTA NP_001341349.1:n.4367+5014_4367+5023delinsCCTCCTTCTA
NM_001354429.1:c.4368-4366_4368-4357delinsCCTCCTTCTA NP_001341358.1:n.4368-4366_4368-4357delinsCCTCCTTCTA
XM_017016573.2:c.4388+2757_4388+2766delinsCCTCCTTCTA XP_016872062.1:n.4388+2757_4388+2766delinsCCTCCTTCTA
XR_001747192.2:n.6360_6369delinsCCTCCTTCTA
XR_001747193.2:n.6351_6360delinsCCTCCTTCTA
NM_001142763.2:c.5368_5377delinsCCTCCTTCTA NP_001136235.1:p.Pro1790=
NM_001142764.2:c.5353_5362delinsCCTCCTTCTA NP_001136236.1:p.Pro1785=
NM_001142765.2:c.5140_5149delinsCCTCCTTCTA NP_001136237.1:p.Pro1714=
NM_001142766.2:c.5338_5347delinsCCTCCTTCTA NP_001136238.1:p.Pro1780=
NM_001142768.2:c.5287_5296delinsCCTCCTTCTA NP_001136240.1:p.Pro1763=
NM_001142769.3:c.4409+2757_4409+2766delinsCCTCCTTCTA NP_001136241.1:n.4409+2757_4409+2766delinsCCTCCTTCTA
NM_001142770.3:c.4373+2757_4373+2766delinsCCTCCTTCTA NP_001136242.1:n.4373+2757_4373+2766delinsCCTCCTTCTA
NM_001142771.2:c.4388+2757_4388+2766delinsCCTCCTTCTA NP_001136243.1:n.4388+2757_4388+2766delinsCCTCCTTCTA
NM_001142772.2:c.4373+2757_4373+2766delinsCCTCCTTCTA NP_001136244.1:n.4373+2757_4373+2766delinsCCTCCTTCTA
NM_001142773.2:c.5278_5287delinsCCTCCTTCTA NP_001136245.1:p.Pro1760=
NM_001354411.2:c.4388+5014_4388+5023delinsCCTCCTTCTA NP_001341340.1:n.4388+5014_4388+5023delinsCCTCCTTCTA
NM_001354420.2:c.4367+5014_4367+5023delinsCCTCCTTCTA NP_001341349.1:n.4367+5014_4367+5023delinsCCTCCTTCTA
NM_001354429.2:c.4368-4366_4368-4357delinsCCTCCTTCTA NP_001341358.1:n.4368-4366_4368-4357delinsCCTCCTTCTA
NM_033056.4:c.5347_5356delinsCCTCCTTCTA MANE Plus Clinical NP_149045.3:p.Pro1783=
NM_001142767.2:c.5227_5236delinsCCTCCTTCTA NP_001136239.1:p.Pro1743=
NM_001354404.2:c.5281_5290delinsCCTCCTTCTA NP_001341333.1:p.Pro1761=
NM_001384140.1:c.4368-2149_4368-2140delinsCCTCCTTCTA MANE Select NP_001371069.1:n.4368-2149_4368-2140delinsCCTCCTTCTA