Canonical Allele Identifier: CA138449
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 46488
ClinVar RCV Id: RCV000039747 RCV000322408 RCV000360567 RCV000415971 RCV001826582 RCV004534844
dbSNP Id: rs397517462
ExAC: 10:55582229 TAGG / T
gnomAD v2: 10-55582229-TAGG-T
gnomAD v3: 10-53822469-TAGG-T
gnomAD v4: 10-53822469-TAGG-T
COSMIC: COSM4573663 COSM4573664
MyVariant Identifiers: chr10:g.55582233_55582235del (hg19) chr10:g.55582230_55582232del (hg19) chr10:g.55582239_55582245delinsGGGA (hg19) chr10:g.53822473_53822475del (hg38) chr10:g.53822471_53822473del (hg38) chr10:g.53822470_53822472del (hg38)
PubMed: PMID:22135276
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822479_53822481del , CM000672.2:g.53822479_53822481del GRCh38
NC_000010.10:g.55582239_55582241del , CM000672.1:g.55582239_55582241del GRCh37
NC_000010.9:g.55252245_55252247del NCBI36
NG_009191.2:g.983820_983822del
NG_009191.3:g.1811711_1811713del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2664_4409+2666del ENSP00000482794.1:n.4409+2664_4409+2666del
ENST00000320301.11:c.5254_5256del MANE Plus Clinical ENSP00000322604.6:p.Pro1752del
ENST00000395445.6:c.4388+4921_4388+4923del ENSP00000378832.2:n.4388+4921_4388+4923del
ENST00000613657.5:c.4409+2664_4409+2666del ENSP00000482794.1:n.4409+2664_4409+2666del
ENST00000642496.1:c.3227-2242_3227-2240del
ENST00000644397.2:c.4368-2242_4368-2240del MANE Select ENSP00000495195.1:n.4368-2242_4368-2240del
ENST00000320301.10:c.5254_5256del ENSP00000322604.6:p.Pro1752del
ENST00000361849.7:c.5260_5262del ENSP00000354950.3:p.Pro1754del
ENST00000373956.7:c.*3209_*3211del ENSP00000363067.4:n.*3209_*3211del
ENST00000373957.7:c.5275_5277del ENSP00000363068.4:p.Pro1759del
ENST00000373965.6:c.4373+2664_4373+2666del ENSP00000363076.3:n.4373+2664_4373+2666del
ENST00000395430.5:c.5245_5247del ENSP00000378818.1:p.Pro1749del
ENST00000395432.6:c.5134_5136del ENSP00000378820.2:p.Pro1712del
ENST00000395433.5:c.5185_5187del ENSP00000378821.1:p.Pro1729del
ENST00000395438.5:c.4371+4920_4371+4922del ENSP00000378826.2:n.4371+4920_4371+4922del
ENST00000395440.5:c.1306-12926_1306-12924del ENSP00000378827.1:n.1306-12926_1306-12924del
ENST00000395442.5:c.1099-12926_1099-12924del ENSP00000378829.1:n.1099-12926_1099-12924del
ENST00000395445.5:c.4388+4921_4388+4923del ENSP00000378832.2:n.4388+4921_4388+4923del
ENST00000395446.5:c.2092-12926_2092-12924del ENSP00000378833.1:n.2092-12926_2092-12924del
ENST00000409834.5:c.3206+2664_3206+2666del ENSP00000386693.1:n.3206+2664_3206+2666del
ENST00000414367.5:c.*447+4921_*447+4923del ENSP00000412531.1:n.*447+4921_*447+4923del
ENST00000414778.5:c.4370+4921_4370+4923del ENSP00000410304.2:n.4370+4921_4370+4923del
ENST00000437009.5:c.5047_5049del ENSP00000412628.2:p.Pro1683del
ENST00000448885.5:c.*3215_*3217del ENSP00000412320.1:n.*3215_*3217del
ENST00000463095.2:n.2273_2275del
ENST00000495484.5:c.462-4459_462-4457del ENSP00000480780.1:n.462-4459_462-4457del
ENST00000612394.4:c.4406+4921_4406+4923del ENSP00000482921.1:n.4406+4921_4406+4923del
ENST00000613657.4:c.4409+2664_4409+2666del ENSP00000482794.1:n.4409+2664_4409+2666del
ENST00000614895.4:c.4385+4921_4385+4923del ENSP00000478512.1:n.4385+4921_4385+4923del
ENST00000616114.4:c.4367+4921_4367+4923del ENSP00000483745.1:n.4367+4921_4367+4923del
ENST00000617051.4:c.5281_5283del ENSP00000484703.1:p.Pro1761del
ENST00000617271.4:c.4373+2664_4373+2666del ENSP00000478076.1:n.4373+2664_4373+2666del
ENST00000618301.4:c.594-4459_594-4457del ENSP00000482780.1:n.594-4459_594-4457del
ENST00000621708.4:c.4388+2664_4388+2666del ENSP00000484454.1:n.4388+2664_4388+2666del
ENST00000622048.4:c.5053_5055del ENSP00000482329.1:p.Pro1685del
NM_001142763.1:c.5275_5277del NP_001136235.1:p.Pro1759del
NM_001142764.1:c.5260_5262del NP_001136236.1:p.Pro1754del
NM_001142765.1:c.5047_5049del NP_001136237.1:p.Pro1683del
NM_001142766.1:c.5245_5247del NP_001136238.1:p.Pro1749del
NM_001142767.1:c.5134_5136del NP_001136239.1:p.Pro1712del
NM_001142768.1:c.5194_5196del NP_001136240.1:p.Pro1732del
NM_001142769.1:c.4409+2664_4409+2666del NP_001136241.1:n.4409+2664_4409+2666del
NM_001142770.1:c.4373+2664_4373+2666del NP_001136242.1:n.4373+2664_4373+2666del
NM_001142771.1:c.4388+2664_4388+2666del NP_001136243.1:n.4388+2664_4388+2666del
NM_001142772.1:c.4373+2664_4373+2666del NP_001136244.1:n.4373+2664_4373+2666del
NM_001142773.1:c.5185_5187del NP_001136245.1:p.Pro1729del
NM_033056.3:c.5254_5256del NP_149045.3:p.Pro1752del
NM_001142769.2:c.4409+2664_4409+2666del NP_001136241.1:n.4409+2664_4409+2666del
NM_001142770.2:c.4373+2664_4373+2666del NP_001136242.1:n.4373+2664_4373+2666del
NM_001354404.1:c.5188_5190del NP_001341333.1:p.Pro1730del
NM_001354411.1:c.4388+4921_4388+4923del NP_001341340.1:n.4388+4921_4388+4923del
NM_001354420.1:c.4367+4921_4367+4923del NP_001341349.1:n.4367+4921_4367+4923del
NM_001354429.1:c.4368-4459_4368-4457del NP_001341358.1:n.4368-4459_4368-4457del
XM_017016573.2:c.4388+2664_4388+2666del XP_016872062.1:n.4388+2664_4388+2666del
XR_001747192.2:n.6267_6269del
XR_001747193.2:n.6258_6260del
NM_001142763.2:c.5275_5277del NP_001136235.1:p.Pro1759del
NM_001142764.2:c.5260_5262del NP_001136236.1:p.Pro1754del
NM_001142765.2:c.5047_5049del NP_001136237.1:p.Pro1683del
NM_001142766.2:c.5245_5247del NP_001136238.1:p.Pro1749del
NM_001142768.2:c.5194_5196del NP_001136240.1:p.Pro1732del
NM_001142769.3:c.4409+2664_4409+2666del NP_001136241.1:n.4409+2664_4409+2666del
NM_001142770.3:c.4373+2664_4373+2666del NP_001136242.1:n.4373+2664_4373+2666del
NM_001142771.2:c.4388+2664_4388+2666del NP_001136243.1:n.4388+2664_4388+2666del
NM_001142772.2:c.4373+2664_4373+2666del NP_001136244.1:n.4373+2664_4373+2666del
NM_001142773.2:c.5185_5187del NP_001136245.1:p.Pro1729del
NM_001354411.2:c.4388+4921_4388+4923del NP_001341340.1:n.4388+4921_4388+4923del
NM_001354420.2:c.4367+4921_4367+4923del NP_001341349.1:n.4367+4921_4367+4923del
NM_001354429.2:c.4368-4459_4368-4457del NP_001341358.1:n.4368-4459_4368-4457del
NM_033056.4:c.5254_5256del MANE Plus Clinical NP_149045.3:p.Pro1752del
NM_001142767.2:c.5134_5136del NP_001136239.1:p.Pro1712del
NM_001354404.2:c.5188_5190del NP_001341333.1:p.Pro1730del
NM_001384140.1:c.4368-2242_4368-2240del MANE Select NP_001371069.1:n.4368-2242_4368-2240del
Search 100 bp 5'
Search 100 bp 3'