Canonical Allele Identifier: CA138463
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 46495
ClinVar RCV Id: RCV000039754 RCV001824285
dbSNP Id: rs397517467
ExAC: 10:55582150 GGACAAAAAA / G
gnomAD v2: 10-55582150-GGACAAAAAA-G
gnomAD v3: 10-53822390-GGACAAAAAA-G
gnomAD v4: 10-53822390-GGACAAAAAA-G
MyVariant Identifiers: chr10:g.55582151_55582159del (hg19) chr10:g.53822392_53822400del (hg38) chr10:g.53822391_53822399del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822393_53822401del , CM000672.2:g.53822393_53822401del GRCh38
NC_000010.10:g.55582153_55582161del , CM000672.1:g.55582153_55582161del GRCh37
NC_000010.9:g.55252159_55252167del NCBI36
NG_009191.2:g.983893_983901del
NG_009191.3:g.1811784_1811792del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2737_4409+2745del ENSP00000482794.1:n.4409+2737_4409+2745del
ENST00000320301.11:c.5327_5335del MANE Plus Clinical ENSP00000322604.6:p.Leu1776_Cys1778del
ENST00000395445.6:c.4388+4994_4388+5002del ENSP00000378832.2:n.4388+4994_4388+5002del
ENST00000613657.5:c.4409+2737_4409+2745del ENSP00000482794.1:n.4409+2737_4409+2745del
ENST00000642496.1:c.3227-2169_3227-2161del
ENST00000644397.2:c.4368-2169_4368-2161del MANE Select ENSP00000495195.1:n.4368-2169_4368-2161del
ENST00000320301.10:c.5327_5335del ENSP00000322604.6:p.Leu1776_Cys1778del
ENST00000361849.7:c.5333_5341del ENSP00000354950.3:p.Leu1778_Cys1780del
ENST00000373956.7:c.*3282_*3290del ENSP00000363067.4:n.*3282_*3290del
ENST00000373957.7:c.5348_5356del ENSP00000363068.4:p.Leu1783_Cys1785del
ENST00000373965.6:c.4373+2737_4373+2745del ENSP00000363076.3:n.4373+2737_4373+2745del
ENST00000395430.5:c.5318_5326del ENSP00000378818.1:p.Leu1773_Cys1775del
ENST00000395432.6:c.5207_5215del ENSP00000378820.2:p.Leu1736_Cys1738del
ENST00000395433.5:c.5258_5266del ENSP00000378821.1:p.Leu1753_Cys1755del
ENST00000395438.5:c.4371+4993_4371+5001del ENSP00000378826.2:n.4371+4993_4371+5001del
ENST00000395440.5:c.1306-12853_1306-12845del ENSP00000378827.1:n.1306-12853_1306-12845del
ENST00000395442.5:c.1099-12853_1099-12845del ENSP00000378829.1:n.1099-12853_1099-12845del
ENST00000395445.5:c.4388+4994_4388+5002del ENSP00000378832.2:n.4388+4994_4388+5002del
ENST00000395446.5:c.2092-12853_2092-12845del ENSP00000378833.1:n.2092-12853_2092-12845del
ENST00000409834.5:c.3206+2737_3206+2745del ENSP00000386693.1:n.3206+2737_3206+2745del
ENST00000414367.5:c.*447+4994_*447+5002del ENSP00000412531.1:n.*447+4994_*447+5002del
ENST00000414778.5:c.4370+4994_4370+5002del ENSP00000410304.2:n.4370+4994_4370+5002del
ENST00000437009.5:c.5120_5128del ENSP00000412628.2:p.Leu1707_Cys1709del
ENST00000448885.5:c.*3288_*3296del ENSP00000412320.1:n.*3288_*3296del
ENST00000463095.2:n.2346_2354del
ENST00000495484.5:c.462-4386_462-4378del ENSP00000480780.1:n.462-4386_462-4378del
ENST00000612394.4:c.4406+4994_4406+5002del ENSP00000482921.1:n.4406+4994_4406+5002del
ENST00000613657.4:c.4409+2737_4409+2745del ENSP00000482794.1:n.4409+2737_4409+2745del
ENST00000614895.4:c.4385+4994_4385+5002del ENSP00000478512.1:n.4385+4994_4385+5002del
ENST00000616114.4:c.4367+4994_4367+5002del ENSP00000483745.1:n.4367+4994_4367+5002del
ENST00000617051.4:c.5354_5362del ENSP00000484703.1:p.Leu1785_Cys1787del
ENST00000617271.4:c.4373+2737_4373+2745del ENSP00000478076.1:n.4373+2737_4373+2745del
ENST00000618301.4:c.594-4386_594-4378del ENSP00000482780.1:n.594-4386_594-4378del
ENST00000621708.4:c.4388+2737_4388+2745del ENSP00000484454.1:n.4388+2737_4388+2745del
ENST00000622048.4:c.5126_5134del ENSP00000482329.1:p.Leu1709_Cys1711del
NM_001142763.1:c.5348_5356del NP_001136235.1:p.Leu1783_Cys1785del
NM_001142764.1:c.5333_5341del NP_001136236.1:p.Leu1778_Cys1780del
NM_001142765.1:c.5120_5128del NP_001136237.1:p.Leu1707_Cys1709del
NM_001142766.1:c.5318_5326del NP_001136238.1:p.Leu1773_Cys1775del
NM_001142767.1:c.5207_5215del NP_001136239.1:p.Leu1736_Cys1738del
NM_001142768.1:c.5267_5275del NP_001136240.1:p.Leu1756_Cys1758del
NM_001142769.1:c.4409+2737_4409+2745del NP_001136241.1:n.4409+2737_4409+2745del
NM_001142770.1:c.4373+2737_4373+2745del NP_001136242.1:n.4373+2737_4373+2745del
NM_001142771.1:c.4388+2737_4388+2745del NP_001136243.1:n.4388+2737_4388+2745del
NM_001142772.1:c.4373+2737_4373+2745del NP_001136244.1:n.4373+2737_4373+2745del
NM_001142773.1:c.5258_5266del NP_001136245.1:p.Leu1753_Cys1755del
NM_033056.3:c.5327_5335del NP_149045.3:p.Leu1776_Cys1778del
NM_001142769.2:c.4409+2737_4409+2745del NP_001136241.1:n.4409+2737_4409+2745del
NM_001142770.2:c.4373+2737_4373+2745del NP_001136242.1:n.4373+2737_4373+2745del
NM_001354404.1:c.5261_5269del NP_001341333.1:p.Leu1754_Cys1756del
NM_001354411.1:c.4388+4994_4388+5002del NP_001341340.1:n.4388+4994_4388+5002del
NM_001354420.1:c.4367+4994_4367+5002del NP_001341349.1:n.4367+4994_4367+5002del
NM_001354429.1:c.4368-4386_4368-4378del NP_001341358.1:n.4368-4386_4368-4378del
XM_017016573.2:c.4388+2737_4388+2745del XP_016872062.1:n.4388+2737_4388+2745del
XR_001747192.2:n.6340_6348del
XR_001747193.2:n.6331_6339del
NM_001142763.2:c.5348_5356del NP_001136235.1:p.Leu1783_Cys1785del
NM_001142764.2:c.5333_5341del NP_001136236.1:p.Leu1778_Cys1780del
NM_001142765.2:c.5120_5128del NP_001136237.1:p.Leu1707_Cys1709del
NM_001142766.2:c.5318_5326del NP_001136238.1:p.Leu1773_Cys1775del
NM_001142768.2:c.5267_5275del NP_001136240.1:p.Leu1756_Cys1758del
NM_001142769.3:c.4409+2737_4409+2745del NP_001136241.1:n.4409+2737_4409+2745del
NM_001142770.3:c.4373+2737_4373+2745del NP_001136242.1:n.4373+2737_4373+2745del
NM_001142771.2:c.4388+2737_4388+2745del NP_001136243.1:n.4388+2737_4388+2745del
NM_001142772.2:c.4373+2737_4373+2745del NP_001136244.1:n.4373+2737_4373+2745del
NM_001142773.2:c.5258_5266del NP_001136245.1:p.Leu1753_Cys1755del
NM_001354411.2:c.4388+4994_4388+5002del NP_001341340.1:n.4388+4994_4388+5002del
NM_001354420.2:c.4367+4994_4367+5002del NP_001341349.1:n.4367+4994_4367+5002del
NM_001354429.2:c.4368-4386_4368-4378del NP_001341358.1:n.4368-4386_4368-4378del
NM_033056.4:c.5327_5335del MANE Plus Clinical NP_149045.3:p.Leu1776_Cys1778del
NM_001142767.2:c.5207_5215del NP_001136239.1:p.Leu1736_Cys1738del
NM_001354404.2:c.5261_5269del NP_001341333.1:p.Leu1754_Cys1756del
NM_001384140.1:c.4368-2169_4368-2161del MANE Select NP_001371069.1:n.4368-2169_4368-2161del
Search 100 bp 5'
Search 100 bp 3'