Canonical Allele Identifier: CA593500010
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1219255494
gnomAD v2: 10-55583201-T-TTACTATTAAATACTTAAAAACATCAAAGGCCAAACAACACTAACCTAC
gnomAD v3: 10-53823441-T-TTACTATTAAATACTTAAAAACATCAAAGGCCAAACAACACTAACCTAC
gnomAD v4: 10-53823441-T-TTACTATTAAATACTTAAAAACATCAAAGGCCAAACAACACTAACCTAC
MyVariant Identifiers: chr10:g.55583201_55583202insTACTATTAAATACTTAAAAACATCAAAGGCCAAACAACACTAACCTAC (hg19) chr10:g.53823441_53823442insTACTATTAAATACTTAAAAACATCAAAGGCCAAACAACACTAACCTAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823444_53823491dup , CM000672.2:g.53823444_53823491dup GRCh38
NC_000010.10:g.55583204_55583251dup , CM000672.1:g.55583204_55583251dup GRCh37
NC_000010.9:g.55253210_55253257dup NCBI36
NG_009191.2:g.982803_982850dup
NG_009191.3:g.1810694_1810741dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1647_4409+1694dup ENSP00000482794.1:n.4409+1647_4409+1694dup
ENST00000320301.11:c.4368-131_4368-84dup MANE Plus Clinical ENSP00000322604.6:n.4368-131_4368-84dup
ENST00000395445.6:c.4388+3904_4388+3951dup ENSP00000378832.2:n.4388+3904_4388+3951dup
ENST00000613657.5:c.4409+1647_4409+1694dup ENSP00000482794.1:n.4409+1647_4409+1694dup
ENST00000642496.1:c.3227-3259_3227-3212dup
ENST00000644397.2:c.4368-3259_4368-3212dup MANE Select ENSP00000495195.1:n.4368-3259_4368-3212dup
ENST00000320301.10:c.4368-131_4368-84dup ENSP00000322604.6:n.4368-131_4368-84dup
ENST00000361849.7:c.4374-131_4374-84dup ENSP00000354950.3:n.4374-131_4374-84dup
ENST00000373956.7:c.*2323-131_*2323-84dup ENSP00000363067.4:n.*2323-131_*2323-84dup
ENST00000373957.7:c.4389-131_4389-84dup ENSP00000363068.4:n.4389-131_4389-84dup
ENST00000373965.6:c.4373+1647_4373+1694dup ENSP00000363076.3:n.4373+1647_4373+1694dup
ENST00000395430.5:c.4359-131_4359-84dup ENSP00000378818.1:n.4359-131_4359-84dup
ENST00000395432.6:c.4248-131_4248-84dup ENSP00000378820.2:n.4248-131_4248-84dup
ENST00000395433.5:c.4299-131_4299-84dup ENSP00000378821.1:n.4299-131_4299-84dup
ENST00000395438.5:c.4371+3903_4371+3950dup ENSP00000378826.2:n.4371+3903_4371+3950dup
ENST00000395440.5:c.1306-13943_1306-13896dup ENSP00000378827.1:n.1306-13943_1306-13896dup
ENST00000395442.5:c.1099-13943_1099-13896dup ENSP00000378829.1:n.1099-13943_1099-13896dup
ENST00000395445.5:c.4388+3904_4388+3951dup ENSP00000378832.2:n.4388+3904_4388+3951dup
ENST00000395446.5:c.2092-13943_2092-13896dup ENSP00000378833.1:n.2092-13943_2092-13896dup
ENST00000409834.5:c.3206+1647_3206+1694dup ENSP00000386693.1:n.3206+1647_3206+1694dup
ENST00000414367.5:c.*447+3904_*447+3951dup ENSP00000412531.1:n.*447+3904_*447+3951dup
ENST00000414778.5:c.4370+3904_4370+3951dup ENSP00000410304.2:n.4370+3904_4370+3951dup
ENST00000437009.5:c.4161-131_4161-84dup ENSP00000412628.2:n.4161-131_4161-84dup
ENST00000448885.5:c.*2329-131_*2329-84dup ENSP00000412320.1:n.*2329-131_*2329-84dup
ENST00000463095.2:n.1387-131_1387-84dup
ENST00000495484.5:c.462-5476_462-5429dup ENSP00000480780.1:n.462-5476_462-5429dup
ENST00000612394.4:c.4406+3904_4406+3951dup ENSP00000482921.1:n.4406+3904_4406+3951dup
ENST00000613657.4:c.4409+1647_4409+1694dup ENSP00000482794.1:n.4409+1647_4409+1694dup
ENST00000614895.4:c.4385+3904_4385+3951dup ENSP00000478512.1:n.4385+3904_4385+3951dup
ENST00000616114.4:c.4367+3904_4367+3951dup ENSP00000483745.1:n.4367+3904_4367+3951dup
ENST00000617051.4:c.4386-122_4386-75dup ENSP00000484703.1:n.4386-122_4386-75dup
ENST00000617271.4:c.4373+1647_4373+1694dup ENSP00000478076.1:n.4373+1647_4373+1694dup
ENST00000618301.4:c.593+3904_593+3951dup ENSP00000482780.1:n.593+3904_593+3951dup
ENST00000621708.4:c.4388+1647_4388+1694dup ENSP00000484454.1:n.4388+1647_4388+1694dup
ENST00000622048.4:c.4158-122_4158-75dup ENSP00000482329.1:n.4158-122_4158-75dup
NM_001142763.1:c.4389-131_4389-84dup NP_001136235.1:n.4389-131_4389-84dup
NM_001142764.1:c.4374-131_4374-84dup NP_001136236.1:n.4374-131_4374-84dup
NM_001142765.1:c.4161-131_4161-84dup NP_001136237.1:n.4161-131_4161-84dup
NM_001142766.1:c.4359-131_4359-84dup NP_001136238.1:n.4359-131_4359-84dup
NM_001142767.1:c.4248-131_4248-84dup NP_001136239.1:n.4248-131_4248-84dup
NM_001142768.1:c.4308-131_4308-84dup NP_001136240.1:n.4308-131_4308-84dup
NM_001142769.1:c.4409+1647_4409+1694dup NP_001136241.1:n.4409+1647_4409+1694dup
NM_001142770.1:c.4373+1647_4373+1694dup NP_001136242.1:n.4373+1647_4373+1694dup
NM_001142771.1:c.4388+1647_4388+1694dup NP_001136243.1:n.4388+1647_4388+1694dup
NM_001142772.1:c.4373+1647_4373+1694dup NP_001136244.1:n.4373+1647_4373+1694dup
NM_001142773.1:c.4299-131_4299-84dup NP_001136245.1:n.4299-131_4299-84dup
NM_033056.3:c.4368-131_4368-84dup NP_149045.3:n.4368-131_4368-84dup
NM_001142769.2:c.4409+1647_4409+1694dup NP_001136241.1:n.4409+1647_4409+1694dup
NM_001142770.2:c.4373+1647_4373+1694dup NP_001136242.1:n.4373+1647_4373+1694dup
NM_001354404.1:c.4302-131_4302-84dup NP_001341333.1:n.4302-131_4302-84dup
NM_001354411.1:c.4388+3904_4388+3951dup NP_001341340.1:n.4388+3904_4388+3951dup
NM_001354420.1:c.4367+3904_4367+3951dup NP_001341349.1:n.4367+3904_4367+3951dup
NM_001354429.1:c.4367+3904_4367+3951dup NP_001341358.1:n.4367+3904_4367+3951dup
XM_017016573.2:c.4388+1647_4388+1694dup XP_016872062.1:n.4388+1647_4388+1694dup
XR_001747192.2:n.5381-131_5381-84dup
XR_001747193.2:n.5372-131_5372-84dup
NM_001142763.2:c.4389-131_4389-84dup NP_001136235.1:n.4389-131_4389-84dup
NM_001142764.2:c.4374-131_4374-84dup NP_001136236.1:n.4374-131_4374-84dup
NM_001142765.2:c.4161-131_4161-84dup NP_001136237.1:n.4161-131_4161-84dup
NM_001142766.2:c.4359-131_4359-84dup NP_001136238.1:n.4359-131_4359-84dup
NM_001142768.2:c.4308-131_4308-84dup NP_001136240.1:n.4308-131_4308-84dup
NM_001142769.3:c.4409+1647_4409+1694dup NP_001136241.1:n.4409+1647_4409+1694dup
NM_001142770.3:c.4373+1647_4373+1694dup NP_001136242.1:n.4373+1647_4373+1694dup
NM_001142771.2:c.4388+1647_4388+1694dup NP_001136243.1:n.4388+1647_4388+1694dup
NM_001142772.2:c.4373+1647_4373+1694dup NP_001136244.1:n.4373+1647_4373+1694dup
NM_001142773.2:c.4299-131_4299-84dup NP_001136245.1:n.4299-131_4299-84dup
NM_001354411.2:c.4388+3904_4388+3951dup NP_001341340.1:n.4388+3904_4388+3951dup
NM_001354420.2:c.4367+3904_4367+3951dup NP_001341349.1:n.4367+3904_4367+3951dup
NM_001354429.2:c.4367+3904_4367+3951dup NP_001341358.1:n.4367+3904_4367+3951dup
NM_033056.4:c.4368-131_4368-84dup MANE Plus Clinical NP_149045.3:n.4368-131_4368-84dup
NM_001142767.2:c.4248-131_4248-84dup NP_001136239.1:n.4248-131_4248-84dup
NM_001354404.2:c.4302-131_4302-84dup NP_001341333.1:n.4302-131_4302-84dup
NM_001384140.1:c.4368-3259_4368-3212dup MANE Select NP_001371069.1:n.4368-3259_4368-3212dup
Search 100 bp 5'
Search 100 bp 3'