Canonical Allele Identifier: CA2574455050
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822512del , CM000672.2:g.53822512del GRCh38
NC_000010.10:g.55582272del , CM000672.1:g.55582272del GRCh37
NC_000010.9:g.55252278del NCBI36
NG_009191.2:g.983782del
NG_009191.3:g.1811673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2626del ENSP00000482794.1:n.4409+2626del
ENST00000320301.11:c.5216del MANE Plus Clinical ENSP00000322604.6:p.Asn1739ThrfsTer?
ENST00000395445.6:c.4388+4883del ENSP00000378832.2:n.4388+4883del
ENST00000613657.5:c.4409+2626del ENSP00000482794.1:n.4409+2626del
ENST00000642496.1:c.3227-2280del
ENST00000644397.2:c.4368-2280del MANE Select ENSP00000495195.1:n.4368-2280del
ENST00000320301.10:c.5216del ENSP00000322604.6:p.Asn1739ThrfsTer?
ENST00000361849.7:c.5222del ENSP00000354950.3:p.Asn1741ThrfsTer?
ENST00000373956.7:c.*3171del ENSP00000363067.4:n.*3171del
ENST00000373957.7:c.5237del ENSP00000363068.4:p.Asn1746ThrfsTer?
ENST00000373965.6:c.4373+2626del ENSP00000363076.3:n.4373+2626del
ENST00000395430.5:c.5207del ENSP00000378818.1:p.Asn1736ThrfsTer?
ENST00000395432.6:c.5096del ENSP00000378820.2:p.Asn1699ThrfsTer?
ENST00000395433.5:c.5147del ENSP00000378821.1:p.Asn1716ThrfsTer?
ENST00000395438.5:c.4371+4882del ENSP00000378826.2:n.4371+4882del
ENST00000395440.5:c.1306-12964del ENSP00000378827.1:n.1306-12964del
ENST00000395442.5:c.1099-12964del ENSP00000378829.1:n.1099-12964del
ENST00000395445.5:c.4388+4883del ENSP00000378832.2:n.4388+4883del
ENST00000395446.5:c.2092-12964del ENSP00000378833.1:n.2092-12964del
ENST00000409834.5:c.3206+2626del ENSP00000386693.1:n.3206+2626del
ENST00000414367.5:c.*447+4883del ENSP00000412531.1:n.*447+4883del
ENST00000414778.5:c.4370+4883del ENSP00000410304.2:n.4370+4883del
ENST00000437009.5:c.5009del ENSP00000412628.2:p.Asn1670ThrfsTer?
ENST00000448885.5:c.*3177del ENSP00000412320.1:n.*3177del
ENST00000463095.2:n.2235del
ENST00000495484.5:c.462-4497del ENSP00000480780.1:n.462-4497del
ENST00000612394.4:c.4406+4883del ENSP00000482921.1:n.4406+4883del
ENST00000613657.4:c.4409+2626del ENSP00000482794.1:n.4409+2626del
ENST00000614895.4:c.4385+4883del ENSP00000478512.1:n.4385+4883del
ENST00000616114.4:c.4367+4883del ENSP00000483745.1:n.4367+4883del
ENST00000617051.4:c.5243del ENSP00000484703.1:p.Asn1748ThrfsTer?
ENST00000617271.4:c.4373+2626del ENSP00000478076.1:n.4373+2626del
ENST00000618301.4:c.594-4497del ENSP00000482780.1:n.594-4497del
ENST00000621708.4:c.4388+2626del ENSP00000484454.1:n.4388+2626del
ENST00000622048.4:c.5015del ENSP00000482329.1:p.Asn1672ThrfsTer?
NM_001142763.1:c.5237del NP_001136235.1:p.Asn1746ThrfsTer?
NM_001142764.1:c.5222del NP_001136236.1:p.Asn1741ThrfsTer?
NM_001142765.1:c.5009del NP_001136237.1:p.Asn1670ThrfsTer?
NM_001142766.1:c.5207del NP_001136238.1:p.Asn1736ThrfsTer?
NM_001142767.1:c.5096del NP_001136239.1:p.Asn1699ThrfsTer?
NM_001142768.1:c.5156del NP_001136240.1:p.Asn1719ThrfsTer?
NM_001142769.1:c.4409+2626del NP_001136241.1:n.4409+2626del
NM_001142770.1:c.4373+2626del NP_001136242.1:n.4373+2626del
NM_001142771.1:c.4388+2626del NP_001136243.1:n.4388+2626del
NM_001142772.1:c.4373+2626del NP_001136244.1:n.4373+2626del
NM_001142773.1:c.5147del NP_001136245.1:p.Asn1716ThrfsTer?
NM_033056.3:c.5216del NP_149045.3:p.Asn1739ThrfsTer?
NM_001142769.2:c.4409+2626del NP_001136241.1:n.4409+2626del
NM_001142770.2:c.4373+2626del NP_001136242.1:n.4373+2626del
NM_001354404.1:c.5150del NP_001341333.1:p.Asn1717ThrfsTer?
NM_001354411.1:c.4388+4883del NP_001341340.1:n.4388+4883del
NM_001354420.1:c.4367+4883del NP_001341349.1:n.4367+4883del
NM_001354429.1:c.4368-4497del NP_001341358.1:n.4368-4497del
XM_017016573.2:c.4388+2626del XP_016872062.1:n.4388+2626del
XR_001747192.2:n.6229del
XR_001747193.2:n.6220del
NM_001142763.2:c.5237del NP_001136235.1:p.Asn1746ThrfsTer?
NM_001142764.2:c.5222del NP_001136236.1:p.Asn1741ThrfsTer?
NM_001142765.2:c.5009del NP_001136237.1:p.Asn1670ThrfsTer?
NM_001142766.2:c.5207del NP_001136238.1:p.Asn1736ThrfsTer?
NM_001142768.2:c.5156del NP_001136240.1:p.Asn1719ThrfsTer?
NM_001142769.3:c.4409+2626del NP_001136241.1:n.4409+2626del
NM_001142770.3:c.4373+2626del NP_001136242.1:n.4373+2626del
NM_001142771.2:c.4388+2626del NP_001136243.1:n.4388+2626del
NM_001142772.2:c.4373+2626del NP_001136244.1:n.4373+2626del
NM_001142773.2:c.5147del NP_001136245.1:p.Asn1716ThrfsTer?
NM_001354411.2:c.4388+4883del NP_001341340.1:n.4388+4883del
NM_001354420.2:c.4367+4883del NP_001341349.1:n.4367+4883del
NM_001354429.2:c.4368-4497del NP_001341358.1:n.4368-4497del
NM_033056.4:c.5216del MANE Plus Clinical NP_149045.3:p.Asn1739ThrfsTer?
NM_001142767.2:c.5096del NP_001136239.1:p.Asn1699ThrfsTer?
NM_001354404.2:c.5150del NP_001341333.1:p.Asn1717ThrfsTer?
NM_001384140.1:c.4368-2280del MANE Select NP_001371069.1:n.4368-2280del