Canonical Allele Identifier: CA5505174

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822834G>T , CM000672.2:g.53822834G>T	GRCh38
NC_000010.10:g.55582594G>T , CM000672.1:g.55582594G>T	GRCh37
NC_000010.9:g.55252600G>T	NCBI36
NG_009191.2:g.983458C>A
NG_009191.3:g.1811349C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2302C>A	ENSP00000482794.1:n.4409+2302C>A
ENST00000320301.11:c.4892C>A MANE Plus Clinical	ENSP00000322604.6:p.Ala1631Glu
ENST00000395445.6:c.4388+4559C>A	ENSP00000378832.2:n.4388+4559C>A
ENST00000613657.5:c.4409+2302C>A	ENSP00000482794.1:n.4409+2302C>A
ENST00000642496.1:c.3227-2604C>A
ENST00000644397.2:c.4368-2604C>A MANE Select	ENSP00000495195.1:n.4368-2604C>A
ENST00000320301.10:c.4892C>A	ENSP00000322604.6:p.Ala1631Glu
ENST00000361849.7:c.4898C>A	ENSP00000354950.3:p.Ala1633Glu
ENST00000373956.7:c.*2847C>A	ENSP00000363067.4:n.*2847C>A
ENST00000373957.7:c.4913C>A	ENSP00000363068.4:p.Ala1638Glu
ENST00000373965.6:c.4373+2302C>A	ENSP00000363076.3:n.4373+2302C>A
ENST00000395430.5:c.4883C>A	ENSP00000378818.1:p.Ala1628Glu
ENST00000395432.6:c.4772C>A	ENSP00000378820.2:p.Ala1591Glu
ENST00000395433.5:c.4823C>A	ENSP00000378821.1:p.Ala1608Glu
ENST00000395438.5:c.4371+4558C>A	ENSP00000378826.2:n.4371+4558C>A
ENST00000395440.5:c.1306-13288C>A	ENSP00000378827.1:n.1306-13288C>A
ENST00000395442.5:c.1099-13288C>A	ENSP00000378829.1:n.1099-13288C>A
ENST00000395445.5:c.4388+4559C>A	ENSP00000378832.2:n.4388+4559C>A
ENST00000395446.5:c.2092-13288C>A	ENSP00000378833.1:n.2092-13288C>A
ENST00000409834.5:c.3206+2302C>A	ENSP00000386693.1:n.3206+2302C>A
ENST00000414367.5:c.*447+4559C>A	ENSP00000412531.1:n.*447+4559C>A
ENST00000414778.5:c.4370+4559C>A	ENSP00000410304.2:n.4370+4559C>A
ENST00000437009.5:c.4685C>A	ENSP00000412628.2:p.Ala1562Glu
ENST00000448885.5:c.*2853C>A	ENSP00000412320.1:n.*2853C>A
ENST00000463095.2:n.1911C>A
ENST00000495484.5:c.462-4821C>A	ENSP00000480780.1:n.462-4821C>A
ENST00000612394.4:c.4406+4559C>A	ENSP00000482921.1:n.4406+4559C>A
ENST00000613657.4:c.4409+2302C>A	ENSP00000482794.1:n.4409+2302C>A
ENST00000614895.4:c.4385+4559C>A	ENSP00000478512.1:n.4385+4559C>A
ENST00000616114.4:c.4367+4559C>A	ENSP00000483745.1:n.4367+4559C>A
ENST00000617051.4:c.4919C>A	ENSP00000484703.1:p.Ala1640Glu
ENST00000617271.4:c.4373+2302C>A	ENSP00000478076.1:n.4373+2302C>A
ENST00000618301.4:c.593+4559C>A	ENSP00000482780.1:n.593+4559C>A
ENST00000621708.4:c.4388+2302C>A	ENSP00000484454.1:n.4388+2302C>A
ENST00000622048.4:c.4691C>A	ENSP00000482329.1:p.Ala1564Glu
NM_001142763.1:c.4913C>A	NP_001136235.1:p.Ala1638Glu
NM_001142764.1:c.4898C>A	NP_001136236.1:p.Ala1633Glu
NM_001142765.1:c.4685C>A	NP_001136237.1:p.Ala1562Glu
NM_001142766.1:c.4883C>A	NP_001136238.1:p.Ala1628Glu
NM_001142767.1:c.4772C>A	NP_001136239.1:p.Ala1591Glu
NM_001142768.1:c.4832C>A	NP_001136240.1:p.Ala1611Glu
NM_001142769.1:c.4409+2302C>A	NP_001136241.1:n.4409+2302C>A
NM_001142770.1:c.4373+2302C>A	NP_001136242.1:n.4373+2302C>A
NM_001142771.1:c.4388+2302C>A	NP_001136243.1:n.4388+2302C>A
NM_001142772.1:c.4373+2302C>A	NP_001136244.1:n.4373+2302C>A
NM_001142773.1:c.4823C>A	NP_001136245.1:p.Ala1608Glu
NM_033056.3:c.4892C>A	NP_149045.3:p.Ala1631Glu
NM_001142769.2:c.4409+2302C>A	NP_001136241.1:n.4409+2302C>A
NM_001142770.2:c.4373+2302C>A	NP_001136242.1:n.4373+2302C>A
NM_001354404.1:c.4826C>A	NP_001341333.1:p.Ala1609Glu
NM_001354411.1:c.4388+4559C>A	NP_001341340.1:n.4388+4559C>A
NM_001354420.1:c.4367+4559C>A	NP_001341349.1:n.4367+4559C>A
NM_001354429.1:c.4367+4559C>A	NP_001341358.1:n.4367+4559C>A
XM_017016573.2:c.4388+2302C>A	XP_016872062.1:n.4388+2302C>A
XR_001747192.2:n.5905C>A
XR_001747193.2:n.5896C>A
NM_001142763.2:c.4913C>A	NP_001136235.1:p.Ala1638Glu
NM_001142764.2:c.4898C>A	NP_001136236.1:p.Ala1633Glu
NM_001142765.2:c.4685C>A	NP_001136237.1:p.Ala1562Glu
NM_001142766.2:c.4883C>A	NP_001136238.1:p.Ala1628Glu
NM_001142768.2:c.4832C>A	NP_001136240.1:p.Ala1611Glu
NM_001142769.3:c.4409+2302C>A	NP_001136241.1:n.4409+2302C>A
NM_001142770.3:c.4373+2302C>A	NP_001136242.1:n.4373+2302C>A
NM_001142771.2:c.4388+2302C>A	NP_001136243.1:n.4388+2302C>A
NM_001142772.2:c.4373+2302C>A	NP_001136244.1:n.4373+2302C>A
NM_001142773.2:c.4823C>A	NP_001136245.1:p.Ala1608Glu
NM_001354411.2:c.4388+4559C>A	NP_001341340.1:n.4388+4559C>A
NM_001354420.2:c.4367+4559C>A	NP_001341349.1:n.4367+4559C>A
NM_001354429.2:c.4367+4559C>A	NP_001341358.1:n.4367+4559C>A
NM_033056.4:c.4892C>A MANE Plus Clinical	NP_149045.3:p.Ala1631Glu
NM_001142767.2:c.4772C>A	NP_001136239.1:p.Ala1591Glu
NM_001354404.2:c.4826C>A	NP_001341333.1:p.Ala1609Glu
NM_001384140.1:c.4368-2604C>A MANE Select	NP_001371069.1:n.4368-2604C>A