Canonical Allele Identifier: CA2739265387

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 2908583
• ClinVar RCV Id: RCV003729844

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823341_53823344dup , CM000672.2:g.53823341_53823344dup	GRCh38
NC_000010.10:g.55583101_55583104dup , CM000672.1:g.55583101_55583104dup	GRCh37
NC_000010.9:g.55253107_55253110dup	NCBI36
NG_009191.2:g.982948_982951dup
NG_009191.3:g.1810839_1810842dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1792_4409+1795dup	ENSP00000482794.1:n.4409+1792_4409+1795dup
ENST00000320301.11:c.4382_4385dup MANE Plus Clinical	ENSP00000322604.6:p.His1462GlnfsTer10
ENST00000395445.6:c.4388+4049_4388+4052dup	ENSP00000378832.2:n.4388+4049_4388+4052dup
ENST00000613657.5:c.4409+1792_4409+1795dup	ENSP00000482794.1:n.4409+1792_4409+1795dup
ENST00000642496.1:c.3227-3114_3227-3111dup
ENST00000644397.2:c.4368-3114_4368-3111dup MANE Select	ENSP00000495195.1:n.4368-3114_4368-3111dup
ENST00000320301.10:c.4382_4385dup	ENSP00000322604.6:p.His1462GlnfsTer10
ENST00000361849.7:c.4388_4391dup	ENSP00000354950.3:p.His1464GlnfsTer10
ENST00000373956.7:c.*2337_*2340dup	ENSP00000363067.4:n.*2337_*2340dup
ENST00000373957.7:c.4403_4406dup	ENSP00000363068.4:p.His1469GlnfsTer10
ENST00000373965.6:c.4373+1792_4373+1795dup	ENSP00000363076.3:n.4373+1792_4373+1795dup
ENST00000395430.5:c.4373_4376dup	ENSP00000378818.1:p.His1459GlnfsTer10
ENST00000395432.6:c.4262_4265dup	ENSP00000378820.2:p.His1422GlnfsTer10
ENST00000395433.5:c.4313_4316dup	ENSP00000378821.1:p.His1439GlnfsTer10
ENST00000395438.5:c.4371+4048_4371+4051dup	ENSP00000378826.2:n.4371+4048_4371+4051dup
ENST00000395440.5:c.1306-13798_1306-13795dup	ENSP00000378827.1:n.1306-13798_1306-13795dup
ENST00000395442.5:c.1099-13798_1099-13795dup	ENSP00000378829.1:n.1099-13798_1099-13795dup
ENST00000395445.5:c.4388+4049_4388+4052dup	ENSP00000378832.2:n.4388+4049_4388+4052dup
ENST00000395446.5:c.2092-13798_2092-13795dup	ENSP00000378833.1:n.2092-13798_2092-13795dup
ENST00000409834.5:c.3206+1792_3206+1795dup	ENSP00000386693.1:n.3206+1792_3206+1795dup
ENST00000414367.5:c.*447+4049_*447+4052dup	ENSP00000412531.1:n.*447+4049_*447+4052dup
ENST00000414778.5:c.4370+4049_4370+4052dup	ENSP00000410304.2:n.4370+4049_4370+4052dup
ENST00000437009.5:c.4175_4178dup	ENSP00000412628.2:p.His1393GlnfsTer10
ENST00000448885.5:c.*2343_*2346dup	ENSP00000412320.1:n.*2343_*2346dup
ENST00000463095.2:n.1401_1404dup
ENST00000495484.5:c.462-5331_462-5328dup	ENSP00000480780.1:n.462-5331_462-5328dup
ENST00000612394.4:c.4406+4049_4406+4052dup	ENSP00000482921.1:n.4406+4049_4406+4052dup
ENST00000613657.4:c.4409+1792_4409+1795dup	ENSP00000482794.1:n.4409+1792_4409+1795dup
ENST00000614895.4:c.4385+4049_4385+4052dup	ENSP00000478512.1:n.4385+4049_4385+4052dup
ENST00000616114.4:c.4367+4049_4367+4052dup	ENSP00000483745.1:n.4367+4049_4367+4052dup
ENST00000617051.4:c.4409_4412dup	ENSP00000484703.1:p.His1471GlnfsTer10
ENST00000617271.4:c.4373+1792_4373+1795dup	ENSP00000478076.1:n.4373+1792_4373+1795dup
ENST00000618301.4:c.593+4049_593+4052dup	ENSP00000482780.1:n.593+4049_593+4052dup
ENST00000621708.4:c.4388+1792_4388+1795dup	ENSP00000484454.1:n.4388+1792_4388+1795dup
ENST00000622048.4:c.4181_4184dup	ENSP00000482329.1:p.His1395GlnfsTer10
NM_001142763.1:c.4403_4406dup	NP_001136235.1:p.His1469GlnfsTer10
NM_001142764.1:c.4388_4391dup	NP_001136236.1:p.His1464GlnfsTer10
NM_001142765.1:c.4175_4178dup	NP_001136237.1:p.His1393GlnfsTer10
NM_001142766.1:c.4373_4376dup	NP_001136238.1:p.His1459GlnfsTer10
NM_001142767.1:c.4262_4265dup	NP_001136239.1:p.His1422GlnfsTer10
NM_001142768.1:c.4322_4325dup	NP_001136240.1:p.His1442GlnfsTer10
NM_001142769.1:c.4409+1792_4409+1795dup	NP_001136241.1:n.4409+1792_4409+1795dup
NM_001142770.1:c.4373+1792_4373+1795dup	NP_001136242.1:n.4373+1792_4373+1795dup
NM_001142771.1:c.4388+1792_4388+1795dup	NP_001136243.1:n.4388+1792_4388+1795dup
NM_001142772.1:c.4373+1792_4373+1795dup	NP_001136244.1:n.4373+1792_4373+1795dup
NM_001142773.1:c.4313_4316dup	NP_001136245.1:p.His1439GlnfsTer10
NM_033056.3:c.4382_4385dup	NP_149045.3:p.His1462GlnfsTer10
NM_001142769.2:c.4409+1792_4409+1795dup	NP_001136241.1:n.4409+1792_4409+1795dup
NM_001142770.2:c.4373+1792_4373+1795dup	NP_001136242.1:n.4373+1792_4373+1795dup
NM_001354404.1:c.4316_4319dup	NP_001341333.1:p.His1440GlnfsTer10
NM_001354411.1:c.4388+4049_4388+4052dup	NP_001341340.1:n.4388+4049_4388+4052dup
NM_001354420.1:c.4367+4049_4367+4052dup	NP_001341349.1:n.4367+4049_4367+4052dup
NM_001354429.1:c.4367+4049_4367+4052dup	NP_001341358.1:n.4367+4049_4367+4052dup
XM_017016573.2:c.4388+1792_4388+1795dup	XP_016872062.1:n.4388+1792_4388+1795dup
XR_001747192.2:n.5395_5398dup
XR_001747193.2:n.5386_5389dup
NM_001142763.2:c.4403_4406dup	NP_001136235.1:p.His1469GlnfsTer10
NM_001142764.2:c.4388_4391dup	NP_001136236.1:p.His1464GlnfsTer10
NM_001142765.2:c.4175_4178dup	NP_001136237.1:p.His1393GlnfsTer10
NM_001142766.2:c.4373_4376dup	NP_001136238.1:p.His1459GlnfsTer10
NM_001142768.2:c.4322_4325dup	NP_001136240.1:p.His1442GlnfsTer10
NM_001142769.3:c.4409+1792_4409+1795dup	NP_001136241.1:n.4409+1792_4409+1795dup
NM_001142770.3:c.4373+1792_4373+1795dup	NP_001136242.1:n.4373+1792_4373+1795dup
NM_001142771.2:c.4388+1792_4388+1795dup	NP_001136243.1:n.4388+1792_4388+1795dup
NM_001142772.2:c.4373+1792_4373+1795dup	NP_001136244.1:n.4373+1792_4373+1795dup
NM_001142773.2:c.4313_4316dup	NP_001136245.1:p.His1439GlnfsTer10
NM_001354411.2:c.4388+4049_4388+4052dup	NP_001341340.1:n.4388+4049_4388+4052dup
NM_001354420.2:c.4367+4049_4367+4052dup	NP_001341349.1:n.4367+4049_4367+4052dup
NM_001354429.2:c.4367+4049_4367+4052dup	NP_001341358.1:n.4367+4049_4367+4052dup
NM_033056.4:c.4382_4385dup MANE Plus Clinical	NP_149045.3:p.His1462GlnfsTer10
NM_001142767.2:c.4262_4265dup	NP_001136239.1:p.His1422GlnfsTer10
NM_001354404.2:c.4316_4319dup	NP_001341333.1:p.His1440GlnfsTer10
NM_001384140.1:c.4368-3114_4368-3111dup MANE Select	NP_001371069.1:n.4368-3114_4368-3111dup