Canonical Allele Identifier: CA2788035349
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822364_53822370del , CM000672.2:g.53822364_53822370del GRCh38
NC_000010.10:g.55582124_55582130del , CM000672.1:g.55582124_55582130del GRCh37
NC_000010.9:g.55252130_55252136del NCBI36
NG_009191.2:g.983922_983928del
NG_009191.3:g.1811813_1811819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2766_4409+2772del ENSP00000482794.1:n.4409+2766_4409+2772del
ENST00000320301.11:c.5356_5362del MANE Plus Clinical ENSP00000322604.6:p.Ile1786PhefsTer?
ENST00000395445.6:c.4388+5023_4388+5029del ENSP00000378832.2:n.4388+5023_4388+5029del
ENST00000613657.5:c.4409+2766_4409+2772del ENSP00000482794.1:n.4409+2766_4409+2772del
ENST00000642496.1:c.3227-2140_3227-2134del
ENST00000644397.2:c.4368-2140_4368-2134del MANE Select ENSP00000495195.1:n.4368-2140_4368-2134del
ENST00000320301.10:c.5356_5362del ENSP00000322604.6:p.Ile1786PhefsTer?
ENST00000361849.7:c.5362_5368del ENSP00000354950.3:p.Ile1788PhefsTer?
ENST00000373956.7:c.*3311_*3317del ENSP00000363067.4:n.*3311_*3317del
ENST00000373957.7:c.5377_5383del ENSP00000363068.4:p.Ile1793PhefsTer?
ENST00000373965.6:c.4373+2766_4373+2772del ENSP00000363076.3:n.4373+2766_4373+2772del
ENST00000395430.5:c.5347_5353del ENSP00000378818.1:p.Ile1783PhefsTer?
ENST00000395432.6:c.5236_5242del ENSP00000378820.2:p.Ile1746PhefsTer?
ENST00000395433.5:c.5287_5293del ENSP00000378821.1:p.Ile1763PhefsTer?
ENST00000395438.5:c.4371+5022_4371+5028del ENSP00000378826.2:n.4371+5022_4371+5028del
ENST00000395440.5:c.1306-12824_1306-12818del ENSP00000378827.1:n.1306-12824_1306-12818del
ENST00000395442.5:c.1099-12824_1099-12818del ENSP00000378829.1:n.1099-12824_1099-12818del
ENST00000395445.5:c.4388+5023_4388+5029del ENSP00000378832.2:n.4388+5023_4388+5029del
ENST00000395446.5:c.2092-12824_2092-12818del ENSP00000378833.1:n.2092-12824_2092-12818del
ENST00000409834.5:c.3206+2766_3206+2772del ENSP00000386693.1:n.3206+2766_3206+2772del
ENST00000414367.5:c.*447+5023_*447+5029del ENSP00000412531.1:n.*447+5023_*447+5029del
ENST00000414778.5:c.4370+5023_4370+5029del ENSP00000410304.2:n.4370+5023_4370+5029del
ENST00000437009.5:c.5149_5155del ENSP00000412628.2:p.Ile1717PhefsTer?
ENST00000448885.5:c.*3317_*3323del ENSP00000412320.1:n.*3317_*3323del
ENST00000463095.2:n.2375_2381del
ENST00000495484.5:c.462-4357_462-4351del ENSP00000480780.1:n.462-4357_462-4351del
ENST00000612394.4:c.4406+5023_4406+5029del ENSP00000482921.1:n.4406+5023_4406+5029del
ENST00000613657.4:c.4409+2766_4409+2772del ENSP00000482794.1:n.4409+2766_4409+2772del
ENST00000614895.4:c.4385+5023_4385+5029del ENSP00000478512.1:n.4385+5023_4385+5029del
ENST00000616114.4:c.4367+5023_4367+5029del ENSP00000483745.1:n.4367+5023_4367+5029del
ENST00000617051.4:c.5383_5389del ENSP00000484703.1:p.Ile1795PhefsTer?
ENST00000617271.4:c.4373+2766_4373+2772del ENSP00000478076.1:n.4373+2766_4373+2772del
ENST00000618301.4:c.594-4357_594-4351del ENSP00000482780.1:n.594-4357_594-4351del
ENST00000621708.4:c.4388+2766_4388+2772del ENSP00000484454.1:n.4388+2766_4388+2772del
ENST00000622048.4:c.5155_5161del ENSP00000482329.1:p.Ile1719PhefsTer?
NM_001142763.1:c.5377_5383del NP_001136235.1:p.Ile1793PhefsTer?
NM_001142764.1:c.5362_5368del NP_001136236.1:p.Ile1788PhefsTer?
NM_001142765.1:c.5149_5155del NP_001136237.1:p.Ile1717PhefsTer?
NM_001142766.1:c.5347_5353del NP_001136238.1:p.Ile1783PhefsTer?
NM_001142767.1:c.5236_5242del NP_001136239.1:p.Ile1746PhefsTer?
NM_001142768.1:c.5296_5302del NP_001136240.1:p.Ile1766PhefsTer?
NM_001142769.1:c.4409+2766_4409+2772del NP_001136241.1:n.4409+2766_4409+2772del
NM_001142770.1:c.4373+2766_4373+2772del NP_001136242.1:n.4373+2766_4373+2772del
NM_001142771.1:c.4388+2766_4388+2772del NP_001136243.1:n.4388+2766_4388+2772del
NM_001142772.1:c.4373+2766_4373+2772del NP_001136244.1:n.4373+2766_4373+2772del
NM_001142773.1:c.5287_5293del NP_001136245.1:p.Ile1763PhefsTer?
NM_033056.3:c.5356_5362del NP_149045.3:p.Ile1786PhefsTer?
NM_001142769.2:c.4409+2766_4409+2772del NP_001136241.1:n.4409+2766_4409+2772del
NM_001142770.2:c.4373+2766_4373+2772del NP_001136242.1:n.4373+2766_4373+2772del
NM_001354404.1:c.5290_5296del NP_001341333.1:p.Ile1764PhefsTer?
NM_001354411.1:c.4388+5023_4388+5029del NP_001341340.1:n.4388+5023_4388+5029del
NM_001354420.1:c.4367+5023_4367+5029del NP_001341349.1:n.4367+5023_4367+5029del
NM_001354429.1:c.4368-4357_4368-4351del NP_001341358.1:n.4368-4357_4368-4351del
XM_017016573.2:c.4388+2766_4388+2772del XP_016872062.1:n.4388+2766_4388+2772del
XR_001747192.2:n.6369_6375del
XR_001747193.2:n.6360_6366del
NM_001142763.2:c.5377_5383del NP_001136235.1:p.Ile1793PhefsTer?
NM_001142764.2:c.5362_5368del NP_001136236.1:p.Ile1788PhefsTer?
NM_001142765.2:c.5149_5155del NP_001136237.1:p.Ile1717PhefsTer?
NM_001142766.2:c.5347_5353del NP_001136238.1:p.Ile1783PhefsTer?
NM_001142768.2:c.5296_5302del NP_001136240.1:p.Ile1766PhefsTer?
NM_001142769.3:c.4409+2766_4409+2772del NP_001136241.1:n.4409+2766_4409+2772del
NM_001142770.3:c.4373+2766_4373+2772del NP_001136242.1:n.4373+2766_4373+2772del
NM_001142771.2:c.4388+2766_4388+2772del NP_001136243.1:n.4388+2766_4388+2772del
NM_001142772.2:c.4373+2766_4373+2772del NP_001136244.1:n.4373+2766_4373+2772del
NM_001142773.2:c.5287_5293del NP_001136245.1:p.Ile1763PhefsTer?
NM_001354411.2:c.4388+5023_4388+5029del NP_001341340.1:n.4388+5023_4388+5029del
NM_001354420.2:c.4367+5023_4367+5029del NP_001341349.1:n.4367+5023_4367+5029del
NM_001354429.2:c.4368-4357_4368-4351del NP_001341358.1:n.4368-4357_4368-4351del
NM_033056.4:c.5356_5362del MANE Plus Clinical NP_149045.3:p.Ile1786PhefsTer?
NM_001142767.2:c.5236_5242del NP_001136239.1:p.Ile1746PhefsTer?
NM_001354404.2:c.5290_5296del NP_001341333.1:p.Ile1764PhefsTer?
NM_001384140.1:c.4368-2140_4368-2134del MANE Select NP_001371069.1:n.4368-2140_4368-2134del