Canonical Allele Identifier: CA593500161
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1258370869
gnomAD v2: 10-55583504-G-GCTCAGGGCTGCCTGTTACGCATAGAAGATTCTTAGCTGTAT
gnomAD v3: 10-53823744-G-GCTCAGGGCTGCCTGTTACGCATAGAAGATTCTTAGCTGTAT
gnomAD v4: 10-53823744-G-GCTCAGGGCTGCCTGTTACGCATAGAAGATTCTTAGCTGTAT
MyVariant Identifiers: chr10:g.55583504_55583505insCTCAGGGCTGCCTGTTACGCATAGAAGATTCTTAGCTGTAT (hg19) chr10:g.53823744_53823745insCTCAGGGCTGCCTGTTACGCATAGAAGATTCTTAGCTGTAT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823747_53823787dup , CM000672.2:g.53823747_53823787dup GRCh38
NC_000010.10:g.55583507_55583547dup , CM000672.1:g.55583507_55583547dup GRCh37
NC_000010.9:g.55253513_55253553dup NCBI36
NG_009191.2:g.982507_982547dup
NG_009191.3:g.1810398_1810438dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1351_4409+1391dup ENSP00000482794.1:n.4409+1351_4409+1391dup
ENST00000320301.11:c.4368-427_4368-387dup MANE Plus Clinical ENSP00000322604.6:n.4368-427_4368-387dup
ENST00000395445.6:c.4388+3608_4388+3648dup ENSP00000378832.2:n.4388+3608_4388+3648dup
ENST00000613657.5:c.4409+1351_4409+1391dup ENSP00000482794.1:n.4409+1351_4409+1391dup
ENST00000642496.1:c.3227-3555_3227-3515dup
ENST00000644397.2:c.4368-3555_4368-3515dup MANE Select ENSP00000495195.1:n.4368-3555_4368-3515dup
ENST00000320301.10:c.4368-427_4368-387dup ENSP00000322604.6:n.4368-427_4368-387dup
ENST00000361849.7:c.4374-427_4374-387dup ENSP00000354950.3:n.4374-427_4374-387dup
ENST00000373956.7:c.*2323-427_*2323-387dup ENSP00000363067.4:n.*2323-427_*2323-387dup
ENST00000373957.7:c.4389-427_4389-387dup ENSP00000363068.4:n.4389-427_4389-387dup
ENST00000373965.6:c.4373+1351_4373+1391dup ENSP00000363076.3:n.4373+1351_4373+1391dup
ENST00000395430.5:c.4359-427_4359-387dup ENSP00000378818.1:n.4359-427_4359-387dup
ENST00000395432.6:c.4248-427_4248-387dup ENSP00000378820.2:n.4248-427_4248-387dup
ENST00000395433.5:c.4299-427_4299-387dup ENSP00000378821.1:n.4299-427_4299-387dup
ENST00000395438.5:c.4371+3607_4371+3647dup ENSP00000378826.2:n.4371+3607_4371+3647dup
ENST00000395440.5:c.1306-14239_1306-14199dup ENSP00000378827.1:n.1306-14239_1306-14199dup
ENST00000395442.5:c.1099-14239_1099-14199dup ENSP00000378829.1:n.1099-14239_1099-14199dup
ENST00000395445.5:c.4388+3608_4388+3648dup ENSP00000378832.2:n.4388+3608_4388+3648dup
ENST00000395446.5:c.2092-14239_2092-14199dup ENSP00000378833.1:n.2092-14239_2092-14199dup
ENST00000409834.5:c.3206+1351_3206+1391dup ENSP00000386693.1:n.3206+1351_3206+1391dup
ENST00000414367.5:c.*447+3608_*447+3648dup ENSP00000412531.1:n.*447+3608_*447+3648dup
ENST00000414778.5:c.4370+3608_4370+3648dup ENSP00000410304.2:n.4370+3608_4370+3648dup
ENST00000437009.5:c.4161-427_4161-387dup ENSP00000412628.2:n.4161-427_4161-387dup
ENST00000448885.5:c.*2329-427_*2329-387dup ENSP00000412320.1:n.*2329-427_*2329-387dup
ENST00000463095.2:n.1387-427_1387-387dup
ENST00000495484.5:c.462-5772_462-5732dup ENSP00000480780.1:n.462-5772_462-5732dup
ENST00000612394.4:c.4406+3608_4406+3648dup ENSP00000482921.1:n.4406+3608_4406+3648dup
ENST00000613657.4:c.4409+1351_4409+1391dup ENSP00000482794.1:n.4409+1351_4409+1391dup
ENST00000614895.4:c.4385+3608_4385+3648dup ENSP00000478512.1:n.4385+3608_4385+3648dup
ENST00000616114.4:c.4367+3608_4367+3648dup ENSP00000483745.1:n.4367+3608_4367+3648dup
ENST00000617051.4:c.4386-418_4386-378dup ENSP00000484703.1:n.4386-418_4386-378dup
ENST00000617271.4:c.4373+1351_4373+1391dup ENSP00000478076.1:n.4373+1351_4373+1391dup
ENST00000618301.4:c.593+3608_593+3648dup ENSP00000482780.1:n.593+3608_593+3648dup
ENST00000621708.4:c.4388+1351_4388+1391dup ENSP00000484454.1:n.4388+1351_4388+1391dup
ENST00000622048.4:c.4158-418_4158-378dup ENSP00000482329.1:n.4158-418_4158-378dup
NM_001142763.1:c.4389-427_4389-387dup NP_001136235.1:n.4389-427_4389-387dup
NM_001142764.1:c.4374-427_4374-387dup NP_001136236.1:n.4374-427_4374-387dup
NM_001142765.1:c.4161-427_4161-387dup NP_001136237.1:n.4161-427_4161-387dup
NM_001142766.1:c.4359-427_4359-387dup NP_001136238.1:n.4359-427_4359-387dup
NM_001142767.1:c.4248-427_4248-387dup NP_001136239.1:n.4248-427_4248-387dup
NM_001142768.1:c.4308-427_4308-387dup NP_001136240.1:n.4308-427_4308-387dup
NM_001142769.1:c.4409+1351_4409+1391dup NP_001136241.1:n.4409+1351_4409+1391dup
NM_001142770.1:c.4373+1351_4373+1391dup NP_001136242.1:n.4373+1351_4373+1391dup
NM_001142771.1:c.4388+1351_4388+1391dup NP_001136243.1:n.4388+1351_4388+1391dup
NM_001142772.1:c.4373+1351_4373+1391dup NP_001136244.1:n.4373+1351_4373+1391dup
NM_001142773.1:c.4299-427_4299-387dup NP_001136245.1:n.4299-427_4299-387dup
NM_033056.3:c.4368-427_4368-387dup NP_149045.3:n.4368-427_4368-387dup
NM_001142769.2:c.4409+1351_4409+1391dup NP_001136241.1:n.4409+1351_4409+1391dup
NM_001142770.2:c.4373+1351_4373+1391dup NP_001136242.1:n.4373+1351_4373+1391dup
NM_001354404.1:c.4302-427_4302-387dup NP_001341333.1:n.4302-427_4302-387dup
NM_001354411.1:c.4388+3608_4388+3648dup NP_001341340.1:n.4388+3608_4388+3648dup
NM_001354420.1:c.4367+3608_4367+3648dup NP_001341349.1:n.4367+3608_4367+3648dup
NM_001354429.1:c.4367+3608_4367+3648dup NP_001341358.1:n.4367+3608_4367+3648dup
XM_017016573.2:c.4388+1351_4388+1391dup XP_016872062.1:n.4388+1351_4388+1391dup
XR_001747192.2:n.5381-427_5381-387dup
XR_001747193.2:n.5372-427_5372-387dup
NM_001142763.2:c.4389-427_4389-387dup NP_001136235.1:n.4389-427_4389-387dup
NM_001142764.2:c.4374-427_4374-387dup NP_001136236.1:n.4374-427_4374-387dup
NM_001142765.2:c.4161-427_4161-387dup NP_001136237.1:n.4161-427_4161-387dup
NM_001142766.2:c.4359-427_4359-387dup NP_001136238.1:n.4359-427_4359-387dup
NM_001142768.2:c.4308-427_4308-387dup NP_001136240.1:n.4308-427_4308-387dup
NM_001142769.3:c.4409+1351_4409+1391dup NP_001136241.1:n.4409+1351_4409+1391dup
NM_001142770.3:c.4373+1351_4373+1391dup NP_001136242.1:n.4373+1351_4373+1391dup
NM_001142771.2:c.4388+1351_4388+1391dup NP_001136243.1:n.4388+1351_4388+1391dup
NM_001142772.2:c.4373+1351_4373+1391dup NP_001136244.1:n.4373+1351_4373+1391dup
NM_001142773.2:c.4299-427_4299-387dup NP_001136245.1:n.4299-427_4299-387dup
NM_001354411.2:c.4388+3608_4388+3648dup NP_001341340.1:n.4388+3608_4388+3648dup
NM_001354420.2:c.4367+3608_4367+3648dup NP_001341349.1:n.4367+3608_4367+3648dup
NM_001354429.2:c.4367+3608_4367+3648dup NP_001341358.1:n.4367+3608_4367+3648dup
NM_033056.4:c.4368-427_4368-387dup MANE Plus Clinical NP_149045.3:n.4368-427_4368-387dup
NM_001142767.2:c.4248-427_4248-387dup NP_001136239.1:n.4248-427_4248-387dup
NM_001354404.2:c.4302-427_4302-387dup NP_001341333.1:n.4302-427_4302-387dup
NM_001384140.1:c.4368-3555_4368-3515dup MANE Select NP_001371069.1:n.4368-3555_4368-3515dup
Search 100 bp 5'
Search 100 bp 3'