Canonical Allele Identifier: CA2573145194
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 1622807
ClinVar RCV Id: RCV002108545
dbSNP Id: rs2132491455

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822393del , CM000672.2:g.53822393del GRCh38
NC_000010.10:g.55582153del , CM000672.1:g.55582153del GRCh37
NC_000010.9:g.55252159del NCBI36
NG_009191.2:g.983899del
NG_009191.3:g.1811790del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2743del ENSP00000482794.1:n.4409+2743del
ENST00000320301.11:c.5333del MANE Plus Clinical ENSP00000322604.6:p.Cys1778PhefsTer?
ENST00000395445.6:c.4388+5000del ENSP00000378832.2:n.4388+5000del
ENST00000613657.5:c.4409+2743del ENSP00000482794.1:n.4409+2743del
ENST00000642496.1:c.3227-2163del
ENST00000644397.2:c.4368-2163del MANE Select ENSP00000495195.1:n.4368-2163del
ENST00000320301.10:c.5333del ENSP00000322604.6:p.Cys1778PhefsTer?
ENST00000361849.7:c.5339del ENSP00000354950.3:p.Cys1780PhefsTer?
ENST00000373956.7:c.*3288del ENSP00000363067.4:n.*3288del
ENST00000373957.7:c.5354del ENSP00000363068.4:p.Cys1785PhefsTer?
ENST00000373965.6:c.4373+2743del ENSP00000363076.3:n.4373+2743del
ENST00000395430.5:c.5324del ENSP00000378818.1:p.Cys1775PhefsTer?
ENST00000395432.6:c.5213del ENSP00000378820.2:p.Cys1738PhefsTer?
ENST00000395433.5:c.5264del ENSP00000378821.1:p.Cys1755PhefsTer?
ENST00000395438.5:c.4371+4999del ENSP00000378826.2:n.4371+4999del
ENST00000395440.5:c.1306-12847del ENSP00000378827.1:n.1306-12847del
ENST00000395442.5:c.1099-12847del ENSP00000378829.1:n.1099-12847del
ENST00000395445.5:c.4388+5000del ENSP00000378832.2:n.4388+5000del
ENST00000395446.5:c.2092-12847del ENSP00000378833.1:n.2092-12847del
ENST00000409834.5:c.3206+2743del ENSP00000386693.1:n.3206+2743del
ENST00000414367.5:c.*447+5000del ENSP00000412531.1:n.*447+5000del
ENST00000414778.5:c.4370+5000del ENSP00000410304.2:n.4370+5000del
ENST00000437009.5:c.5126del ENSP00000412628.2:p.Cys1709PhefsTer?
ENST00000448885.5:c.*3294del ENSP00000412320.1:n.*3294del
ENST00000463095.2:n.2352del
ENST00000495484.5:c.462-4380del ENSP00000480780.1:n.462-4380del
ENST00000612394.4:c.4406+5000del ENSP00000482921.1:n.4406+5000del
ENST00000613657.4:c.4409+2743del ENSP00000482794.1:n.4409+2743del
ENST00000614895.4:c.4385+5000del ENSP00000478512.1:n.4385+5000del
ENST00000616114.4:c.4367+5000del ENSP00000483745.1:n.4367+5000del
ENST00000617051.4:c.5360del ENSP00000484703.1:p.Cys1787PhefsTer?
ENST00000617271.4:c.4373+2743del ENSP00000478076.1:n.4373+2743del
ENST00000618301.4:c.594-4380del ENSP00000482780.1:n.594-4380del
ENST00000621708.4:c.4388+2743del ENSP00000484454.1:n.4388+2743del
ENST00000622048.4:c.5132del ENSP00000482329.1:p.Cys1711PhefsTer?
NM_001142763.1:c.5354del NP_001136235.1:p.Cys1785PhefsTer?
NM_001142764.1:c.5339del NP_001136236.1:p.Cys1780PhefsTer?
NM_001142765.1:c.5126del NP_001136237.1:p.Cys1709PhefsTer?
NM_001142766.1:c.5324del NP_001136238.1:p.Cys1775PhefsTer?
NM_001142767.1:c.5213del NP_001136239.1:p.Cys1738PhefsTer?
NM_001142768.1:c.5273del NP_001136240.1:p.Cys1758PhefsTer?
NM_001142769.1:c.4409+2743del NP_001136241.1:n.4409+2743del
NM_001142770.1:c.4373+2743del NP_001136242.1:n.4373+2743del
NM_001142771.1:c.4388+2743del NP_001136243.1:n.4388+2743del
NM_001142772.1:c.4373+2743del NP_001136244.1:n.4373+2743del
NM_001142773.1:c.5264del NP_001136245.1:p.Cys1755PhefsTer?
NM_033056.3:c.5333del NP_149045.3:p.Cys1778PhefsTer?
NM_001142769.2:c.4409+2743del NP_001136241.1:n.4409+2743del
NM_001142770.2:c.4373+2743del NP_001136242.1:n.4373+2743del
NM_001354404.1:c.5267del NP_001341333.1:p.Cys1756PhefsTer?
NM_001354411.1:c.4388+5000del NP_001341340.1:n.4388+5000del
NM_001354420.1:c.4367+5000del NP_001341349.1:n.4367+5000del
NM_001354429.1:c.4368-4380del NP_001341358.1:n.4368-4380del
XM_017016573.2:c.4388+2743del XP_016872062.1:n.4388+2743del
XR_001747192.2:n.6346del
XR_001747193.2:n.6337del
NM_001142763.2:c.5354del NP_001136235.1:p.Cys1785PhefsTer?
NM_001142764.2:c.5339del NP_001136236.1:p.Cys1780PhefsTer?
NM_001142765.2:c.5126del NP_001136237.1:p.Cys1709PhefsTer?
NM_001142766.2:c.5324del NP_001136238.1:p.Cys1775PhefsTer?
NM_001142768.2:c.5273del NP_001136240.1:p.Cys1758PhefsTer?
NM_001142769.3:c.4409+2743del NP_001136241.1:n.4409+2743del
NM_001142770.3:c.4373+2743del NP_001136242.1:n.4373+2743del
NM_001142771.2:c.4388+2743del NP_001136243.1:n.4388+2743del
NM_001142772.2:c.4373+2743del NP_001136244.1:n.4373+2743del
NM_001142773.2:c.5264del NP_001136245.1:p.Cys1755PhefsTer?
NM_001354411.2:c.4388+5000del NP_001341340.1:n.4388+5000del
NM_001354420.2:c.4367+5000del NP_001341349.1:n.4367+5000del
NM_001354429.2:c.4368-4380del NP_001341358.1:n.4368-4380del
NM_033056.4:c.5333del MANE Plus Clinical NP_149045.3:p.Cys1778PhefsTer?
NM_001142767.2:c.5213del NP_001136239.1:p.Cys1738PhefsTer?
NM_001354404.2:c.5267del NP_001341333.1:p.Cys1756PhefsTer?
NM_001384140.1:c.4368-2163del MANE Select NP_001371069.1:n.4368-2163del