Canonical Allele Identifier: CA185064
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 179750
ClinVar RCV Id: RCV000156548 RCV000766307 RCV001826854 RCV003917535
dbSNP Id: rs1554820012
ExAC: 10:55582143 GGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCA / G
gnomAD v2: 10-55582143-GGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCA-G
gnomAD v3: 10-53822383-GGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCA-G
gnomAD v4: 10-53822383-GGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCA-G
MyVariant Identifiers: chr10:g.55582144_55582206del (hg19) chr10:g.53822385_53822447del (hg38) chr10:g.53822384_53822446del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822393_53822455del , CM000672.2:g.53822393_53822455del GRCh38
NC_000010.10:g.55582153_55582215del , CM000672.1:g.55582153_55582215del GRCh37
NC_000010.9:g.55252159_55252221del NCBI36
NG_009191.2:g.983846_983908del
NG_009191.3:g.1811737_1811799del

Transcript Alleles

HGVS Amino-acid change
ENST00000613657.6:c.4409+2690_4409+2752del ENSP00000482794.1:n.4409+2690_4409+2752del
ENST00000320301.11:c.5280_5342del MANE Plus Clinical ENSP00000322604.6:p.Ala1761_Pro1781del
ENST00000395445.6:c.4388+4947_4388+5009del ENSP00000378832.2:n.4388+4947_4388+5009del
ENST00000613657.5:c.4409+2690_4409+2752del ENSP00000482794.1:n.4409+2690_4409+2752del
ENST00000642496.1:c.3227-2216_3227-2154del
ENST00000644397.2:c.4368-2216_4368-2154del MANE Select ENSP00000495195.1:n.4368-2216_4368-2154del
ENST00000320301.10:c.5280_5342del ENSP00000322604.6:p.Ala1761_Pro1781del
ENST00000361849.7:c.5286_5348del ENSP00000354950.3:p.Ala1763_Pro1783del
ENST00000373956.7:c.*3235_*3297del ENSP00000363067.4:n.*3235_*3297del
ENST00000373957.7:c.5301_5363del ENSP00000363068.4:p.Ala1768_Pro1788del
ENST00000373965.6:c.4373+2690_4373+2752del ENSP00000363076.3:n.4373+2690_4373+2752del
ENST00000395430.5:c.5271_5333del ENSP00000378818.1:p.Ala1758_Pro1778del
ENST00000395432.6:c.5160_5222del ENSP00000378820.2:p.Ala1721_Pro1741del
ENST00000395433.5:c.5211_5273del ENSP00000378821.1:p.Ala1738_Pro1758del
ENST00000395438.5:c.4371+4946_4371+5008del ENSP00000378826.2:n.4371+4946_4371+5008del
ENST00000395440.5:c.1306-12900_1306-12838del ENSP00000378827.1:n.1306-12900_1306-12838del
ENST00000395442.5:c.1099-12900_1099-12838del ENSP00000378829.1:n.1099-12900_1099-12838del
ENST00000395445.5:c.4388+4947_4388+5009del ENSP00000378832.2:n.4388+4947_4388+5009del
ENST00000395446.5:c.2092-12900_2092-12838del ENSP00000378833.1:n.2092-12900_2092-12838del
ENST00000409834.5:c.3206+2690_3206+2752del ENSP00000386693.1:n.3206+2690_3206+2752del
ENST00000414367.5:c.*447+4947_*447+5009del ENSP00000412531.1:n.*447+4947_*447+5009del
ENST00000414778.5:c.4370+4947_4370+5009del ENSP00000410304.2:n.4370+4947_4370+5009del
ENST00000437009.5:c.5073_5135del ENSP00000412628.2:p.Ala1692_Pro1712del
ENST00000448885.5:c.*3241_*3303del ENSP00000412320.1:n.*3241_*3303del
ENST00000463095.2:n.2299_2361del
ENST00000495484.5:c.462-4433_462-4371del ENSP00000480780.1:n.462-4433_462-4371del
ENST00000612394.4:c.4406+4947_4406+5009del ENSP00000482921.1:n.4406+4947_4406+5009del
ENST00000613657.4:c.4409+2690_4409+2752del ENSP00000482794.1:n.4409+2690_4409+2752del
ENST00000614895.4:c.4385+4947_4385+5009del ENSP00000478512.1:n.4385+4947_4385+5009del
ENST00000616114.4:c.4367+4947_4367+5009del ENSP00000483745.1:n.4367+4947_4367+5009del
ENST00000617051.4:c.5307_5369del ENSP00000484703.1:p.Ala1770_Pro1790del
ENST00000617271.4:c.4373+2690_4373+2752del ENSP00000478076.1:n.4373+2690_4373+2752del
ENST00000618301.4:c.594-4433_594-4371del ENSP00000482780.1:n.594-4433_594-4371del
ENST00000621708.4:c.4388+2690_4388+2752del ENSP00000484454.1:n.4388+2690_4388+2752del
ENST00000622048.4:c.5079_5141del ENSP00000482329.1:p.Ala1694_Pro1714del
NM_001142763.1:c.5301_5363del NP_001136235.1:p.Ala1768_Pro1788del
NM_001142764.1:c.5286_5348del NP_001136236.1:p.Ala1763_Pro1783del
NM_001142765.1:c.5073_5135del NP_001136237.1:p.Ala1692_Pro1712del
NM_001142766.1:c.5271_5333del NP_001136238.1:p.Ala1758_Pro1778del
NM_001142767.1:c.5160_5222del NP_001136239.1:p.Ala1721_Pro1741del
NM_001142768.1:c.5220_5282del NP_001136240.1:p.Ala1741_Pro1761del
NM_001142769.1:c.4409+2690_4409+2752del NP_001136241.1:n.4409+2690_4409+2752del
NM_001142770.1:c.4373+2690_4373+2752del NP_001136242.1:n.4373+2690_4373+2752del
NM_001142771.1:c.4388+2690_4388+2752del NP_001136243.1:n.4388+2690_4388+2752del
NM_001142772.1:c.4373+2690_4373+2752del NP_001136244.1:n.4373+2690_4373+2752del
NM_001142773.1:c.5211_5273del NP_001136245.1:p.Ala1738_Pro1758del
NM_033056.3:c.5280_5342del NP_149045.3:p.Ala1761_Pro1781del
NM_001142769.2:c.4409+2690_4409+2752del NP_001136241.1:n.4409+2690_4409+2752del
NM_001142770.2:c.4373+2690_4373+2752del NP_001136242.1:n.4373+2690_4373+2752del
NM_001354404.1:c.5214_5276del NP_001341333.1:p.Ala1739_Pro1759del
NM_001354411.1:c.4388+4947_4388+5009del NP_001341340.1:n.4388+4947_4388+5009del
NM_001354420.1:c.4367+4947_4367+5009del NP_001341349.1:n.4367+4947_4367+5009del
NM_001354429.1:c.4368-4433_4368-4371del NP_001341358.1:n.4368-4433_4368-4371del
XM_017016573.2:c.4388+2690_4388+2752del XP_016872062.1:n.4388+2690_4388+2752del
XR_001747192.2:n.6293_6355del
XR_001747193.2:n.6284_6346del
NM_001142763.2:c.5301_5363del NP_001136235.1:p.Ala1768_Pro1788del
NM_001142764.2:c.5286_5348del NP_001136236.1:p.Ala1763_Pro1783del
NM_001142765.2:c.5073_5135del NP_001136237.1:p.Ala1692_Pro1712del
NM_001142766.2:c.5271_5333del NP_001136238.1:p.Ala1758_Pro1778del
NM_001142768.2:c.5220_5282del NP_001136240.1:p.Ala1741_Pro1761del
NM_001142769.3:c.4409+2690_4409+2752del NP_001136241.1:n.4409+2690_4409+2752del
NM_001142770.3:c.4373+2690_4373+2752del NP_001136242.1:n.4373+2690_4373+2752del
NM_001142771.2:c.4388+2690_4388+2752del NP_001136243.1:n.4388+2690_4388+2752del
NM_001142772.2:c.4373+2690_4373+2752del NP_001136244.1:n.4373+2690_4373+2752del
NM_001142773.2:c.5211_5273del NP_001136245.1:p.Ala1738_Pro1758del
NM_001354411.2:c.4388+4947_4388+5009del NP_001341340.1:n.4388+4947_4388+5009del
NM_001354420.2:c.4367+4947_4367+5009del NP_001341349.1:n.4367+4947_4367+5009del
NM_001354429.2:c.4368-4433_4368-4371del NP_001341358.1:n.4368-4433_4368-4371del
NM_033056.4:c.5280_5342del MANE Plus Clinical NP_149045.3:p.Ala1761_Pro1781del
NM_001142767.2:c.5160_5222del NP_001136239.1:p.Ala1721_Pro1741del
NM_001354404.2:c.5214_5276del NP_001341333.1:p.Ala1739_Pro1759del
NM_001384140.1:c.4368-2216_4368-2154del MANE Select NP_001371069.1:n.4368-2216_4368-2154del
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