Canonical Allele Identifier: CA912970234
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823306_53823317del , CM000672.2:g.53823306_53823317del GRCh38
NC_000010.10:g.55583066_55583077del , CM000672.1:g.55583066_55583077del GRCh37
NC_000010.9:g.55253072_55253083del NCBI36
NG_009191.2:g.982976_982987del
NG_009191.3:g.1810867_1810878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1820_4409+1831del ENSP00000482794.1:n.4409+1820_4409+1831del
ENST00000320301.11:c.4410_4421del MANE Plus Clinical ENSP00000322604.6:p.Asn1470_Glu1474delinsLys
ENST00000395445.6:c.4388+4077_4388+4088del ENSP00000378832.2:n.4388+4077_4388+4088del
ENST00000613657.5:c.4409+1820_4409+1831del ENSP00000482794.1:n.4409+1820_4409+1831del
ENST00000642496.1:c.3227-3086_3227-3075del
ENST00000644397.2:c.4368-3086_4368-3075del MANE Select ENSP00000495195.1:n.4368-3086_4368-3075del
ENST00000320301.10:c.4410_4421del ENSP00000322604.6:p.Asn1470_Glu1474delinsLys
ENST00000361849.7:c.4416_4427del ENSP00000354950.3:p.Asn1472_Glu1476delinsLys
ENST00000373956.7:c.*2365_*2376del ENSP00000363067.4:n.*2365_*2376del
ENST00000373957.7:c.4431_4442del ENSP00000363068.4:p.Asn1477_Glu1481delinsLys
ENST00000373965.6:c.4373+1820_4373+1831del ENSP00000363076.3:n.4373+1820_4373+1831del
ENST00000395430.5:c.4401_4412del ENSP00000378818.1:p.Asn1467_Glu1471delinsLys
ENST00000395432.6:c.4290_4301del ENSP00000378820.2:p.Asn1430_Glu1434delinsLys
ENST00000395433.5:c.4341_4352del ENSP00000378821.1:p.Asn1447_Glu1451delinsLys
ENST00000395438.5:c.4371+4076_4371+4087del ENSP00000378826.2:n.4371+4076_4371+4087del
ENST00000395440.5:c.1306-13770_1306-13759del ENSP00000378827.1:n.1306-13770_1306-13759del
ENST00000395442.5:c.1099-13770_1099-13759del ENSP00000378829.1:n.1099-13770_1099-13759del
ENST00000395445.5:c.4388+4077_4388+4088del ENSP00000378832.2:n.4388+4077_4388+4088del
ENST00000395446.5:c.2092-13770_2092-13759del ENSP00000378833.1:n.2092-13770_2092-13759del
ENST00000409834.5:c.3206+1820_3206+1831del ENSP00000386693.1:n.3206+1820_3206+1831del
ENST00000414367.5:c.*447+4077_*447+4088del ENSP00000412531.1:n.*447+4077_*447+4088del
ENST00000414778.5:c.4370+4077_4370+4088del ENSP00000410304.2:n.4370+4077_4370+4088del
ENST00000437009.5:c.4203_4214del ENSP00000412628.2:p.Asn1401_Glu1405delinsLys
ENST00000448885.5:c.*2371_*2382del ENSP00000412320.1:n.*2371_*2382del
ENST00000463095.2:n.1429_1440del
ENST00000495484.5:c.462-5303_462-5292del ENSP00000480780.1:n.462-5303_462-5292del
ENST00000612394.4:c.4406+4077_4406+4088del ENSP00000482921.1:n.4406+4077_4406+4088del
ENST00000613657.4:c.4409+1820_4409+1831del ENSP00000482794.1:n.4409+1820_4409+1831del
ENST00000614895.4:c.4385+4077_4385+4088del ENSP00000478512.1:n.4385+4077_4385+4088del
ENST00000616114.4:c.4367+4077_4367+4088del ENSP00000483745.1:n.4367+4077_4367+4088del
ENST00000617051.4:c.4437_4448del ENSP00000484703.1:p.Asn1479_Glu1483delinsLys
ENST00000617271.4:c.4373+1820_4373+1831del ENSP00000478076.1:n.4373+1820_4373+1831del
ENST00000618301.4:c.593+4077_593+4088del ENSP00000482780.1:n.593+4077_593+4088del
ENST00000621708.4:c.4388+1820_4388+1831del ENSP00000484454.1:n.4388+1820_4388+1831del
ENST00000622048.4:c.4209_4220del ENSP00000482329.1:p.Asn1403_Glu1407delinsLys
NM_001142763.1:c.4431_4442del NP_001136235.1:p.Asn1477_Glu1481delinsLys
NM_001142764.1:c.4416_4427del NP_001136236.1:p.Asn1472_Glu1476delinsLys
NM_001142765.1:c.4203_4214del NP_001136237.1:p.Asn1401_Glu1405delinsLys
NM_001142766.1:c.4401_4412del NP_001136238.1:p.Asn1467_Glu1471delinsLys
NM_001142767.1:c.4290_4301del NP_001136239.1:p.Asn1430_Glu1434delinsLys
NM_001142768.1:c.4350_4361del NP_001136240.1:p.Asn1450_Glu1454delinsLys
NM_001142769.1:c.4409+1820_4409+1831del NP_001136241.1:n.4409+1820_4409+1831del
NM_001142770.1:c.4373+1820_4373+1831del NP_001136242.1:n.4373+1820_4373+1831del
NM_001142771.1:c.4388+1820_4388+1831del NP_001136243.1:n.4388+1820_4388+1831del
NM_001142772.1:c.4373+1820_4373+1831del NP_001136244.1:n.4373+1820_4373+1831del
NM_001142773.1:c.4341_4352del NP_001136245.1:p.Asn1447_Glu1451delinsLys
NM_033056.3:c.4410_4421del NP_149045.3:p.Asn1470_Glu1474delinsLys
NM_001142769.2:c.4409+1820_4409+1831del NP_001136241.1:n.4409+1820_4409+1831del
NM_001142770.2:c.4373+1820_4373+1831del NP_001136242.1:n.4373+1820_4373+1831del
NM_001354404.1:c.4344_4355del NP_001341333.1:p.Asn1448_Glu1452delinsLys
NM_001354411.1:c.4388+4077_4388+4088del NP_001341340.1:n.4388+4077_4388+4088del
NM_001354420.1:c.4367+4077_4367+4088del NP_001341349.1:n.4367+4077_4367+4088del
NM_001354429.1:c.4367+4077_4367+4088del NP_001341358.1:n.4367+4077_4367+4088del
XM_017016573.2:c.4388+1820_4388+1831del XP_016872062.1:n.4388+1820_4388+1831del
XR_001747192.2:n.5423_5434del
XR_001747193.2:n.5414_5425del
NM_001142763.2:c.4431_4442del NP_001136235.1:p.Asn1477_Glu1481delinsLys
NM_001142764.2:c.4416_4427del NP_001136236.1:p.Asn1472_Glu1476delinsLys
NM_001142765.2:c.4203_4214del NP_001136237.1:p.Asn1401_Glu1405delinsLys
NM_001142766.2:c.4401_4412del NP_001136238.1:p.Asn1467_Glu1471delinsLys
NM_001142768.2:c.4350_4361del NP_001136240.1:p.Asn1450_Glu1454delinsLys
NM_001142769.3:c.4409+1820_4409+1831del NP_001136241.1:n.4409+1820_4409+1831del
NM_001142770.3:c.4373+1820_4373+1831del NP_001136242.1:n.4373+1820_4373+1831del
NM_001142771.2:c.4388+1820_4388+1831del NP_001136243.1:n.4388+1820_4388+1831del
NM_001142772.2:c.4373+1820_4373+1831del NP_001136244.1:n.4373+1820_4373+1831del
NM_001142773.2:c.4341_4352del NP_001136245.1:p.Asn1447_Glu1451delinsLys
NM_001354411.2:c.4388+4077_4388+4088del NP_001341340.1:n.4388+4077_4388+4088del
NM_001354420.2:c.4367+4077_4367+4088del NP_001341349.1:n.4367+4077_4367+4088del
NM_001354429.2:c.4367+4077_4367+4088del NP_001341358.1:n.4367+4077_4367+4088del
NM_033056.4:c.4410_4421del MANE Plus Clinical NP_149045.3:p.Asn1470_Glu1474delinsLys
NM_001142767.2:c.4290_4301del NP_001136239.1:p.Asn1430_Glu1434delinsLys
NM_001354404.2:c.4344_4355del NP_001341333.1:p.Asn1448_Glu1452delinsLys
NM_001384140.1:c.4368-3086_4368-3075del MANE Select NP_001371069.1:n.4368-3086_4368-3075del