Canonical Allele Identifier: CA1910742081
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823305T= , CM000672.2:g.53823305T= GRCh38
NC_000010.10:g.55583065T= , CM000672.1:g.55583065T= GRCh37
NC_000010.9:g.55253071T= NCBI36
NG_009191.2:g.982987A=
NG_009191.3:g.1810878A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1831A= ENSP00000482794.1:n.4409+1831A=
ENST00000320301.11:c.4421A= MANE Plus Clinical ENSP00000322604.6:p.Glu1474=
ENST00000395445.6:c.4388+4088A= ENSP00000378832.2:n.4388+4088A=
ENST00000613657.5:c.4409+1831A= ENSP00000482794.1:n.4409+1831A=
ENST00000642496.1:c.3227-3075A=
ENST00000644397.2:c.4368-3075A= MANE Select ENSP00000495195.1:n.4368-3075A=
ENST00000320301.10:c.4421A= ENSP00000322604.6:p.Glu1474=
ENST00000361849.7:c.4427A= ENSP00000354950.3:p.Glu1476=
ENST00000373956.7:c.*2376A= ENSP00000363067.4:n.*2376A=
ENST00000373957.7:c.4442A= ENSP00000363068.4:p.Glu1481=
ENST00000373965.6:c.4373+1831A= ENSP00000363076.3:n.4373+1831A=
ENST00000395430.5:c.4412A= ENSP00000378818.1:p.Glu1471=
ENST00000395432.6:c.4301A= ENSP00000378820.2:p.Glu1434=
ENST00000395433.5:c.4352A= ENSP00000378821.1:p.Glu1451=
ENST00000395438.5:c.4371+4087A= ENSP00000378826.2:n.4371+4087A=
ENST00000395440.5:c.1306-13759A= ENSP00000378827.1:n.1306-13759A=
ENST00000395442.5:c.1099-13759A= ENSP00000378829.1:n.1099-13759A=
ENST00000395445.5:c.4388+4088A= ENSP00000378832.2:n.4388+4088A=
ENST00000395446.5:c.2092-13759A= ENSP00000378833.1:n.2092-13759A=
ENST00000409834.5:c.3206+1831A= ENSP00000386693.1:n.3206+1831A=
ENST00000414367.5:c.*447+4088A= ENSP00000412531.1:n.*447+4088A=
ENST00000414778.5:c.4370+4088A= ENSP00000410304.2:n.4370+4088A=
ENST00000437009.5:c.4214A= ENSP00000412628.2:p.Glu1405=
ENST00000448885.5:c.*2382A= ENSP00000412320.1:n.*2382A=
ENST00000463095.2:n.1440A=
ENST00000495484.5:c.462-5292A= ENSP00000480780.1:n.462-5292A=
ENST00000612394.4:c.4406+4088A= ENSP00000482921.1:n.4406+4088A=
ENST00000613657.4:c.4409+1831A= ENSP00000482794.1:n.4409+1831A=
ENST00000614895.4:c.4385+4088A= ENSP00000478512.1:n.4385+4088A=
ENST00000616114.4:c.4367+4088A= ENSP00000483745.1:n.4367+4088A=
ENST00000617051.4:c.4448A= ENSP00000484703.1:p.Glu1483=
ENST00000617271.4:c.4373+1831A= ENSP00000478076.1:n.4373+1831A=
ENST00000618301.4:c.593+4088A= ENSP00000482780.1:n.593+4088A=
ENST00000621708.4:c.4388+1831A= ENSP00000484454.1:n.4388+1831A=
ENST00000622048.4:c.4220A= ENSP00000482329.1:p.Glu1407=
NM_001142763.1:c.4442A= NP_001136235.1:p.Glu1481=
NM_001142764.1:c.4427A= NP_001136236.1:p.Glu1476=
NM_001142765.1:c.4214A= NP_001136237.1:p.Glu1405=
NM_001142766.1:c.4412A= NP_001136238.1:p.Glu1471=
NM_001142767.1:c.4301A= NP_001136239.1:p.Glu1434=
NM_001142768.1:c.4361A= NP_001136240.1:p.Glu1454=
NM_001142769.1:c.4409+1831A= NP_001136241.1:n.4409+1831A=
NM_001142770.1:c.4373+1831A= NP_001136242.1:n.4373+1831A=
NM_001142771.1:c.4388+1831A= NP_001136243.1:n.4388+1831A=
NM_001142772.1:c.4373+1831A= NP_001136244.1:n.4373+1831A=
NM_001142773.1:c.4352A= NP_001136245.1:p.Glu1451=
NM_033056.3:c.4421A= NP_149045.3:p.Glu1474=
NM_001142769.2:c.4409+1831A= NP_001136241.1:n.4409+1831A=
NM_001142770.2:c.4373+1831A= NP_001136242.1:n.4373+1831A=
NM_001354404.1:c.4355A= NP_001341333.1:p.Glu1452=
NM_001354411.1:c.4388+4088A= NP_001341340.1:n.4388+4088A=
NM_001354420.1:c.4367+4088A= NP_001341349.1:n.4367+4088A=
NM_001354429.1:c.4367+4088A= NP_001341358.1:n.4367+4088A=
XM_017016573.2:c.4388+1831A= XP_016872062.1:n.4388+1831A=
XR_001747192.2:n.5434A=
XR_001747193.2:n.5425A=
NM_001142763.2:c.4442A= NP_001136235.1:p.Glu1481=
NM_001142764.2:c.4427A= NP_001136236.1:p.Glu1476=
NM_001142765.2:c.4214A= NP_001136237.1:p.Glu1405=
NM_001142766.2:c.4412A= NP_001136238.1:p.Glu1471=
NM_001142768.2:c.4361A= NP_001136240.1:p.Glu1454=
NM_001142769.3:c.4409+1831A= NP_001136241.1:n.4409+1831A=
NM_001142770.3:c.4373+1831A= NP_001136242.1:n.4373+1831A=
NM_001142771.2:c.4388+1831A= NP_001136243.1:n.4388+1831A=
NM_001142772.2:c.4373+1831A= NP_001136244.1:n.4373+1831A=
NM_001142773.2:c.4352A= NP_001136245.1:p.Glu1451=
NM_001354411.2:c.4388+4088A= NP_001341340.1:n.4388+4088A=
NM_001354420.2:c.4367+4088A= NP_001341349.1:n.4367+4088A=
NM_001354429.2:c.4367+4088A= NP_001341358.1:n.4367+4088A=
NM_033056.4:c.4421A= MANE Plus Clinical NP_149045.3:p.Glu1474=
NM_001142767.2:c.4301A= NP_001136239.1:p.Glu1434=
NM_001354404.2:c.4355A= NP_001341333.1:p.Glu1452=
NM_001384140.1:c.4368-3075A= MANE Select NP_001371069.1:n.4368-3075A=