Canonical Allele Identifier: CA2573145192
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 1663506
ClinVar RCV Id: RCV002188539
dbSNP Id: rs1564531800

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822203_53822206dup , CM000672.2:g.53822203_53822206dup GRCh38
NC_000010.10:g.55581963_55581966dup , CM000672.1:g.55581963_55581966dup GRCh37
NC_000010.9:g.55251969_55251972dup NCBI36
NG_009191.2:g.984089_984092dup
NG_009191.3:g.1811980_1811983dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2933_4409+2936dup ENSP00000482794.1:n.4409+2933_4409+2936dup
ENST00000320301.11:c.5523_5526dup MANE Plus Clinical ENSP00000322604.6:p.Ile1843LeufsTer6
ENST00000395445.6:c.4388+5190_4388+5193dup ENSP00000378832.2:n.4388+5190_4388+5193dup
ENST00000613657.5:c.4409+2933_4409+2936dup ENSP00000482794.1:n.4409+2933_4409+2936dup
ENST00000642496.1:c.3227-1973_3227-1970dup
ENST00000644397.2:c.4368-1973_4368-1970dup MANE Select ENSP00000495195.1:n.4368-1973_4368-1970dup
ENST00000320301.10:c.5523_5526dup ENSP00000322604.6:p.Ile1843LeufsTer6
ENST00000361849.7:c.5529_5532dup ENSP00000354950.3:p.Ile1845LeufsTer6
ENST00000373956.7:c.*3478_*3481dup ENSP00000363067.4:n.*3478_*3481dup
ENST00000373957.7:c.5544_5547dup ENSP00000363068.4:p.Ile1850LeufsTer6
ENST00000373965.6:c.4373+2933_4373+2936dup ENSP00000363076.3:n.4373+2933_4373+2936dup
ENST00000395430.5:c.5514_5517dup ENSP00000378818.1:p.Ile1840LeufsTer6
ENST00000395432.6:c.5403_5406dup ENSP00000378820.2:p.Ile1803LeufsTer6
ENST00000395433.5:c.5454_5457dup ENSP00000378821.1:p.Ile1820LeufsTer6
ENST00000395438.5:c.4371+5189_4371+5192dup ENSP00000378826.2:n.4371+5189_4371+5192dup
ENST00000395440.5:c.1306-12657_1306-12654dup ENSP00000378827.1:n.1306-12657_1306-12654dup
ENST00000395442.5:c.1099-12657_1099-12654dup ENSP00000378829.1:n.1099-12657_1099-12654dup
ENST00000395445.5:c.4388+5190_4388+5193dup ENSP00000378832.2:n.4388+5190_4388+5193dup
ENST00000395446.5:c.2092-12657_2092-12654dup ENSP00000378833.1:n.2092-12657_2092-12654dup
ENST00000409834.5:c.3206+2933_3206+2936dup ENSP00000386693.1:n.3206+2933_3206+2936dup
ENST00000414367.5:c.*447+5190_*447+5193dup ENSP00000412531.1:n.*447+5190_*447+5193dup
ENST00000414778.5:c.4370+5190_4370+5193dup ENSP00000410304.2:n.4370+5190_4370+5193dup
ENST00000437009.5:c.5316_5319dup ENSP00000412628.2:p.Ile1774LeufsTer6
ENST00000448885.5:c.*3484_*3487dup ENSP00000412320.1:n.*3484_*3487dup
ENST00000463095.2:n.2542_2545dup
ENST00000495484.5:c.462-4190_462-4187dup ENSP00000480780.1:n.462-4190_462-4187dup
ENST00000612394.4:c.4406+5190_4406+5193dup ENSP00000482921.1:n.4406+5190_4406+5193dup
ENST00000613657.4:c.4409+2933_4409+2936dup ENSP00000482794.1:n.4409+2933_4409+2936dup
ENST00000614895.4:c.4385+5190_4385+5193dup ENSP00000478512.1:n.4385+5190_4385+5193dup
ENST00000616114.4:c.4367+5190_4367+5193dup ENSP00000483745.1:n.4367+5190_4367+5193dup
ENST00000617051.4:c.5550_5553dup ENSP00000484703.1:p.Ile1852LeufsTer6
ENST00000617271.4:c.4373+2933_4373+2936dup ENSP00000478076.1:n.4373+2933_4373+2936dup
ENST00000618301.4:c.594-4190_594-4187dup ENSP00000482780.1:n.594-4190_594-4187dup
ENST00000621708.4:c.4388+2933_4388+2936dup ENSP00000484454.1:n.4388+2933_4388+2936dup
ENST00000622048.4:c.5322_5325dup ENSP00000482329.1:p.Ile1776LeufsTer6
NM_001142763.1:c.5544_5547dup NP_001136235.1:p.Ile1850LeufsTer6
NM_001142764.1:c.5529_5532dup NP_001136236.1:p.Ile1845LeufsTer6
NM_001142765.1:c.5316_5319dup NP_001136237.1:p.Ile1774LeufsTer6
NM_001142766.1:c.5514_5517dup NP_001136238.1:p.Ile1840LeufsTer6
NM_001142767.1:c.5403_5406dup NP_001136239.1:p.Ile1803LeufsTer6
NM_001142768.1:c.5463_5466dup NP_001136240.1:p.Ile1823LeufsTer6
NM_001142769.1:c.4409+2933_4409+2936dup NP_001136241.1:n.4409+2933_4409+2936dup
NM_001142770.1:c.4373+2933_4373+2936dup NP_001136242.1:n.4373+2933_4373+2936dup
NM_001142771.1:c.4388+2933_4388+2936dup NP_001136243.1:n.4388+2933_4388+2936dup
NM_001142772.1:c.4373+2933_4373+2936dup NP_001136244.1:n.4373+2933_4373+2936dup
NM_001142773.1:c.5454_5457dup NP_001136245.1:p.Ile1820LeufsTer6
NM_033056.3:c.5523_5526dup NP_149045.3:p.Ile1843LeufsTer6
NM_001142769.2:c.4409+2933_4409+2936dup NP_001136241.1:n.4409+2933_4409+2936dup
NM_001142770.2:c.4373+2933_4373+2936dup NP_001136242.1:n.4373+2933_4373+2936dup
NM_001354404.1:c.5457_5460dup NP_001341333.1:p.Ile1821LeufsTer6
NM_001354411.1:c.4388+5190_4388+5193dup NP_001341340.1:n.4388+5190_4388+5193dup
NM_001354420.1:c.4367+5190_4367+5193dup NP_001341349.1:n.4367+5190_4367+5193dup
NM_001354429.1:c.4368-4190_4368-4187dup NP_001341358.1:n.4368-4190_4368-4187dup
XM_017016573.2:c.4388+2933_4388+2936dup XP_016872062.1:n.4388+2933_4388+2936dup
XR_001747192.2:n.6536_6539dup
XR_001747193.2:n.6527_6530dup
NM_001142763.2:c.5544_5547dup NP_001136235.1:p.Ile1850LeufsTer6
NM_001142764.2:c.5529_5532dup NP_001136236.1:p.Ile1845LeufsTer6
NM_001142765.2:c.5316_5319dup NP_001136237.1:p.Ile1774LeufsTer6
NM_001142766.2:c.5514_5517dup NP_001136238.1:p.Ile1840LeufsTer6
NM_001142768.2:c.5463_5466dup NP_001136240.1:p.Ile1823LeufsTer6
NM_001142769.3:c.4409+2933_4409+2936dup NP_001136241.1:n.4409+2933_4409+2936dup
NM_001142770.3:c.4373+2933_4373+2936dup NP_001136242.1:n.4373+2933_4373+2936dup
NM_001142771.2:c.4388+2933_4388+2936dup NP_001136243.1:n.4388+2933_4388+2936dup
NM_001142772.2:c.4373+2933_4373+2936dup NP_001136244.1:n.4373+2933_4373+2936dup
NM_001142773.2:c.5454_5457dup NP_001136245.1:p.Ile1820LeufsTer6
NM_001354411.2:c.4388+5190_4388+5193dup NP_001341340.1:n.4388+5190_4388+5193dup
NM_001354420.2:c.4367+5190_4367+5193dup NP_001341349.1:n.4367+5190_4367+5193dup
NM_001354429.2:c.4368-4190_4368-4187dup NP_001341358.1:n.4368-4190_4368-4187dup
NM_033056.4:c.5523_5526dup MANE Plus Clinical NP_149045.3:p.Ile1843LeufsTer6
NM_001142767.2:c.5403_5406dup NP_001136239.1:p.Ile1803LeufsTer6
NM_001354404.2:c.5457_5460dup NP_001341333.1:p.Ile1821LeufsTer6
NM_001384140.1:c.4368-1973_4368-1970dup MANE Select NP_001371069.1:n.4368-1973_4368-1970dup