Canonical Allele Identifier: CA3265270744
Community Standard Title: NM_001384140.1(PCDH15):c.4368-1892_4368-1890del
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822122_53822124del , CM000672.2:g.53822122_53822124del GRCh38
NC_000010.10:g.55581882_55581884del , CM000672.1:g.55581882_55581884del GRCh37
NC_000010.9:g.55251888_55251890del NCBI36
NG_009191.2:g.984170_984172del
NG_009191.3:g.1812061_1812063del

Transcript Alleles

HGVS Amino-acid Change
NM_001384140.1:c.4368-1892_4368-1890del MANE Select NP_001371069.1:n.4368-1892_4368-1890del
ENST00000644397.2:c.4368-1892_4368-1890del MANE Select ENSP00000495195.1:n.4368-1892_4368-1890del
NM_033056.4:c.5604_5606del MANE Plus Clinical NP_149045.3:p.Thr1869del
ENST00000320301.11:c.5604_5606del MANE Plus Clinical ENSP00000322604.6:p.Thr1869del
NM_001142763.1:c.5625_5627del NP_001136235.1:p.Thr1876del
NM_001142763.2:c.5625_5627del NP_001136235.1:p.Thr1876del
NM_001142764.1:c.5610_5612del NP_001136236.1:p.Thr1871del
NM_001142764.2:c.5610_5612del NP_001136236.1:p.Thr1871del
NM_001142765.1:c.5397_5399del NP_001136237.1:p.Thr1800del
NM_001142765.2:c.5397_5399del NP_001136237.1:p.Thr1800del
NM_001142766.1:c.5595_5597del NP_001136238.1:p.Thr1866del
NM_001142766.2:c.5595_5597del NP_001136238.1:p.Thr1866del
NM_001142767.1:c.5484_5486del NP_001136239.1:p.Thr1829del
NM_001142767.2:c.5484_5486del NP_001136239.1:p.Thr1829del
NM_001142768.1:c.5544_5546del NP_001136240.1:p.Thr1849del
NM_001142768.2:c.5544_5546del NP_001136240.1:p.Thr1849del
NM_001142769.1:c.4409+3014_4409+3016del NP_001136241.1:n.4409+3014_4409+3016del
NM_001142769.2:c.4409+3014_4409+3016del NP_001136241.1:n.4409+3014_4409+3016del
NM_001142769.3:c.4409+3014_4409+3016del NP_001136241.1:n.4409+3014_4409+3016del
NM_001142770.1:c.4373+3014_4373+3016del NP_001136242.1:n.4373+3014_4373+3016del
NM_001142770.2:c.4373+3014_4373+3016del NP_001136242.1:n.4373+3014_4373+3016del
NM_001142770.3:c.4373+3014_4373+3016del NP_001136242.1:n.4373+3014_4373+3016del
NM_001142771.1:c.4388+3014_4388+3016del NP_001136243.1:n.4388+3014_4388+3016del
NM_001142771.2:c.4388+3014_4388+3016del NP_001136243.1:n.4388+3014_4388+3016del
NM_001142772.1:c.4373+3014_4373+3016del NP_001136244.1:n.4373+3014_4373+3016del
NM_001142772.2:c.4373+3014_4373+3016del NP_001136244.1:n.4373+3014_4373+3016del
NM_001142773.1:c.5535_5537del NP_001136245.1:p.Thr1846del
NM_001142773.2:c.5535_5537del NP_001136245.1:p.Thr1846del
NM_001354404.1:c.5538_5540del NP_001341333.1:p.Thr1847del
NM_001354404.2:c.5538_5540del NP_001341333.1:p.Thr1847del
NM_001354411.1:c.4388+5271_4388+5273del NP_001341340.1:n.4388+5271_4388+5273del
NM_001354411.2:c.4388+5271_4388+5273del NP_001341340.1:n.4388+5271_4388+5273del
NM_001354420.1:c.4367+5271_4367+5273del NP_001341349.1:n.4367+5271_4367+5273del
NM_001354420.2:c.4367+5271_4367+5273del NP_001341349.1:n.4367+5271_4367+5273del
NM_001354429.1:c.4368-4109_4368-4107del NP_001341358.1:n.4368-4109_4368-4107del
NM_001354429.2:c.4368-4109_4368-4107del NP_001341358.1:n.4368-4109_4368-4107del
NM_033056.3:c.5604_5606del NP_149045.3:p.Thr1869del
ENST00000320301.10:c.5604_5606del ENSP00000322604.6:p.Thr1869del
ENST00000361849.7:c.5610_5612del ENSP00000354950.3:p.Thr1871del
ENST00000373956.7:c.*3559_*3561del ENSP00000363067.4:n.*3559_*3561del
ENST00000373957.7:c.5625_5627del ENSP00000363068.4:p.Thr1876del
ENST00000373965.6:c.4373+3014_4373+3016del ENSP00000363076.3:n.4373+3014_4373+3016del
ENST00000395430.5:c.5595_5597del ENSP00000378818.1:p.Thr1866del
ENST00000395432.6:c.5484_5486del ENSP00000378820.2:p.Thr1829del
ENST00000395433.5:c.5535_5537del ENSP00000378821.1:p.Thr1846del
ENST00000395438.5:c.4371+5270_4371+5272del ENSP00000378826.2:n.4371+5270_4371+5272del
ENST00000395440.5:c.1306-12576_1306-12574del ENSP00000378827.1:n.1306-12576_1306-12574del
ENST00000395442.5:c.1099-12576_1099-12574del ENSP00000378829.1:n.1099-12576_1099-12574del
ENST00000395445.5:c.4388+5271_4388+5273del ENSP00000378832.2:n.4388+5271_4388+5273del
ENST00000395445.6:c.4388+5271_4388+5273del ENSP00000378832.2:n.4388+5271_4388+5273del
ENST00000395446.5:c.2092-12576_2092-12574del ENSP00000378833.1:n.2092-12576_2092-12574del
ENST00000409834.5:c.3206+3014_3206+3016del ENSP00000386693.1:n.3206+3014_3206+3016del
ENST00000414367.5:c.*447+5271_*447+5273del ENSP00000412531.1:n.*447+5271_*447+5273del
ENST00000414778.5:c.4370+5271_4370+5273del ENSP00000410304.2:n.4370+5271_4370+5273del
ENST00000437009.5:c.5397_5399del ENSP00000412628.2:p.Thr1800del
ENST00000448885.5:c.*3565_*3567del ENSP00000412320.1:n.*3565_*3567del
ENST00000463095.2:n.2623_2625del
ENST00000495484.5:c.462-4109_462-4107del ENSP00000480780.1:n.462-4109_462-4107del
ENST00000612394.4:c.4406+5271_4406+5273del ENSP00000482921.1:n.4406+5271_4406+5273del
ENST00000613657.4:c.4409+3014_4409+3016del ENSP00000482794.1:n.4409+3014_4409+3016del
ENST00000613657.5:c.4409+3014_4409+3016del ENSP00000482794.1:n.4409+3014_4409+3016del
ENST00000613657.6:c.4409+3014_4409+3016del ENSP00000482794.1:n.4409+3014_4409+3016del
ENST00000614895.4:c.4385+5271_4385+5273del ENSP00000478512.1:n.4385+5271_4385+5273del
ENST00000616114.4:c.4367+5271_4367+5273del ENSP00000483745.1:n.4367+5271_4367+5273del
ENST00000617051.4:c.5631_5633del ENSP00000484703.1:p.Thr1878del
ENST00000617271.4:c.4373+3014_4373+3016del ENSP00000478076.1:n.4373+3014_4373+3016del
ENST00000618301.4:c.594-4109_594-4107del ENSP00000482780.1:n.594-4109_594-4107del
ENST00000621708.4:c.4388+3014_4388+3016del ENSP00000484454.1:n.4388+3014_4388+3016del
ENST00000622048.4:c.5403_5405del ENSP00000482329.1:p.Thr1802del
ENST00000642496.1:c.3227-1892_3227-1890del
XM_017016573.2:c.4388+3014_4388+3016del XP_016872062.1:n.4388+3014_4388+3016del
XR_001747192.2:n.6617_6619del
XR_001747193.2:n.6608_6610del