Canonical Allele Identifier: CA928498306
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs2076460120
gnomAD v3: 10-53823549-A-AGTT
gnomAD v4: 10-53823549-A-AGTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53823552_53823554dup , CM000672.2:g.53823552_53823554dup GRCh38
NC_000010.10:g.55583312_55583314dup , CM000672.1:g.55583312_55583314dup GRCh37
NC_000010.9:g.55253318_55253320dup NCBI36
NG_009191.2:g.982740_982742dup
NG_009191.3:g.1810631_1810633dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+1584_4409+1586dup ENSP00000482794.1:n.4409+1584_4409+1586dup
ENST00000320301.11:c.4368-194_4368-192dup MANE Plus Clinical ENSP00000322604.6:n.4368-194_4368-192dup
ENST00000395445.6:c.4388+3841_4388+3843dup ENSP00000378832.2:n.4388+3841_4388+3843dup
ENST00000613657.5:c.4409+1584_4409+1586dup ENSP00000482794.1:n.4409+1584_4409+1586dup
ENST00000642496.1:c.3227-3322_3227-3320dup
ENST00000644397.2:c.4368-3322_4368-3320dup MANE Select ENSP00000495195.1:n.4368-3322_4368-3320dup
ENST00000320301.10:c.4368-194_4368-192dup ENSP00000322604.6:n.4368-194_4368-192dup
ENST00000361849.7:c.4374-194_4374-192dup ENSP00000354950.3:n.4374-194_4374-192dup
ENST00000373956.7:c.*2323-194_*2323-192dup ENSP00000363067.4:n.*2323-194_*2323-192dup
ENST00000373957.7:c.4389-194_4389-192dup ENSP00000363068.4:n.4389-194_4389-192dup
ENST00000373965.6:c.4373+1584_4373+1586dup ENSP00000363076.3:n.4373+1584_4373+1586dup
ENST00000395430.5:c.4359-194_4359-192dup ENSP00000378818.1:n.4359-194_4359-192dup
ENST00000395432.6:c.4248-194_4248-192dup ENSP00000378820.2:n.4248-194_4248-192dup
ENST00000395433.5:c.4299-194_4299-192dup ENSP00000378821.1:n.4299-194_4299-192dup
ENST00000395438.5:c.4371+3840_4371+3842dup ENSP00000378826.2:n.4371+3840_4371+3842dup
ENST00000395440.5:c.1306-14006_1306-14004dup ENSP00000378827.1:n.1306-14006_1306-14004dup
ENST00000395442.5:c.1099-14006_1099-14004dup ENSP00000378829.1:n.1099-14006_1099-14004dup
ENST00000395445.5:c.4388+3841_4388+3843dup ENSP00000378832.2:n.4388+3841_4388+3843dup
ENST00000395446.5:c.2092-14006_2092-14004dup ENSP00000378833.1:n.2092-14006_2092-14004dup
ENST00000409834.5:c.3206+1584_3206+1586dup ENSP00000386693.1:n.3206+1584_3206+1586dup
ENST00000414367.5:c.*447+3841_*447+3843dup ENSP00000412531.1:n.*447+3841_*447+3843dup
ENST00000414778.5:c.4370+3841_4370+3843dup ENSP00000410304.2:n.4370+3841_4370+3843dup
ENST00000437009.5:c.4161-194_4161-192dup ENSP00000412628.2:n.4161-194_4161-192dup
ENST00000448885.5:c.*2329-194_*2329-192dup ENSP00000412320.1:n.*2329-194_*2329-192dup
ENST00000463095.2:n.1387-194_1387-192dup
ENST00000495484.5:c.462-5539_462-5537dup ENSP00000480780.1:n.462-5539_462-5537dup
ENST00000612394.4:c.4406+3841_4406+3843dup ENSP00000482921.1:n.4406+3841_4406+3843dup
ENST00000613657.4:c.4409+1584_4409+1586dup ENSP00000482794.1:n.4409+1584_4409+1586dup
ENST00000614895.4:c.4385+3841_4385+3843dup ENSP00000478512.1:n.4385+3841_4385+3843dup
ENST00000616114.4:c.4367+3841_4367+3843dup ENSP00000483745.1:n.4367+3841_4367+3843dup
ENST00000617051.4:c.4386-185_4386-183dup ENSP00000484703.1:n.4386-185_4386-183dup
ENST00000617271.4:c.4373+1584_4373+1586dup ENSP00000478076.1:n.4373+1584_4373+1586dup
ENST00000618301.4:c.593+3841_593+3843dup ENSP00000482780.1:n.593+3841_593+3843dup
ENST00000621708.4:c.4388+1584_4388+1586dup ENSP00000484454.1:n.4388+1584_4388+1586dup
ENST00000622048.4:c.4158-185_4158-183dup ENSP00000482329.1:n.4158-185_4158-183dup
NM_001142763.1:c.4389-194_4389-192dup NP_001136235.1:n.4389-194_4389-192dup
NM_001142764.1:c.4374-194_4374-192dup NP_001136236.1:n.4374-194_4374-192dup
NM_001142765.1:c.4161-194_4161-192dup NP_001136237.1:n.4161-194_4161-192dup
NM_001142766.1:c.4359-194_4359-192dup NP_001136238.1:n.4359-194_4359-192dup
NM_001142767.1:c.4248-194_4248-192dup NP_001136239.1:n.4248-194_4248-192dup
NM_001142768.1:c.4308-194_4308-192dup NP_001136240.1:n.4308-194_4308-192dup
NM_001142769.1:c.4409+1584_4409+1586dup NP_001136241.1:n.4409+1584_4409+1586dup
NM_001142770.1:c.4373+1584_4373+1586dup NP_001136242.1:n.4373+1584_4373+1586dup
NM_001142771.1:c.4388+1584_4388+1586dup NP_001136243.1:n.4388+1584_4388+1586dup
NM_001142772.1:c.4373+1584_4373+1586dup NP_001136244.1:n.4373+1584_4373+1586dup
NM_001142773.1:c.4299-194_4299-192dup NP_001136245.1:n.4299-194_4299-192dup
NM_033056.3:c.4368-194_4368-192dup NP_149045.3:n.4368-194_4368-192dup
NM_001142769.2:c.4409+1584_4409+1586dup NP_001136241.1:n.4409+1584_4409+1586dup
NM_001142770.2:c.4373+1584_4373+1586dup NP_001136242.1:n.4373+1584_4373+1586dup
NM_001354404.1:c.4302-194_4302-192dup NP_001341333.1:n.4302-194_4302-192dup
NM_001354411.1:c.4388+3841_4388+3843dup NP_001341340.1:n.4388+3841_4388+3843dup
NM_001354420.1:c.4367+3841_4367+3843dup NP_001341349.1:n.4367+3841_4367+3843dup
NM_001354429.1:c.4367+3841_4367+3843dup NP_001341358.1:n.4367+3841_4367+3843dup
XM_017016573.2:c.4388+1584_4388+1586dup XP_016872062.1:n.4388+1584_4388+1586dup
XR_001747192.2:n.5381-194_5381-192dup
XR_001747193.2:n.5372-194_5372-192dup
NM_001142763.2:c.4389-194_4389-192dup NP_001136235.1:n.4389-194_4389-192dup
NM_001142764.2:c.4374-194_4374-192dup NP_001136236.1:n.4374-194_4374-192dup
NM_001142765.2:c.4161-194_4161-192dup NP_001136237.1:n.4161-194_4161-192dup
NM_001142766.2:c.4359-194_4359-192dup NP_001136238.1:n.4359-194_4359-192dup
NM_001142768.2:c.4308-194_4308-192dup NP_001136240.1:n.4308-194_4308-192dup
NM_001142769.3:c.4409+1584_4409+1586dup NP_001136241.1:n.4409+1584_4409+1586dup
NM_001142770.3:c.4373+1584_4373+1586dup NP_001136242.1:n.4373+1584_4373+1586dup
NM_001142771.2:c.4388+1584_4388+1586dup NP_001136243.1:n.4388+1584_4388+1586dup
NM_001142772.2:c.4373+1584_4373+1586dup NP_001136244.1:n.4373+1584_4373+1586dup
NM_001142773.2:c.4299-194_4299-192dup NP_001136245.1:n.4299-194_4299-192dup
NM_001354411.2:c.4388+3841_4388+3843dup NP_001341340.1:n.4388+3841_4388+3843dup
NM_001354420.2:c.4367+3841_4367+3843dup NP_001341349.1:n.4367+3841_4367+3843dup
NM_001354429.2:c.4367+3841_4367+3843dup NP_001341358.1:n.4367+3841_4367+3843dup
NM_033056.4:c.4368-194_4368-192dup MANE Plus Clinical NP_149045.3:n.4368-194_4368-192dup
NM_001142767.2:c.4248-194_4248-192dup NP_001136239.1:n.4248-194_4248-192dup
NM_001354404.2:c.4302-194_4302-192dup NP_001341333.1:n.4302-194_4302-192dup
NM_001384140.1:c.4368-3322_4368-3320dup MANE Select NP_001371069.1:n.4368-3322_4368-3320dup
Search 100 bp 5'
Search 100 bp 3'