Canonical Allele Identifier: CA2609212700

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53823169-C-CTCATCAGATAGAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823170_53823184dup , CM000672.2:g.53823170_53823184dup	GRCh38
NC_000010.10:g.55582930_55582944dup , CM000672.1:g.55582930_55582944dup	GRCh37
NC_000010.9:g.55252936_55252950dup	NCBI36
NG_009191.2:g.983108_983122dup
NG_009191.3:g.1810999_1811013dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1952_4409+1966dup	ENSP00000482794.1:n.4409+1952_4409+1966dup
ENST00000320301.11:c.4542_4556dup MANE Plus Clinical	ENSP00000322604.6:p.Glu1519_Asp1520insPheLeuSerAspGlu
ENST00000395445.6:c.4388+4209_4388+4223dup	ENSP00000378832.2:n.4388+4209_4388+4223dup
ENST00000613657.5:c.4409+1952_4409+1966dup	ENSP00000482794.1:n.4409+1952_4409+1966dup
ENST00000642496.1:c.3227-2954_3227-2940dup
ENST00000644397.2:c.4368-2954_4368-2940dup MANE Select	ENSP00000495195.1:n.4368-2954_4368-2940dup
ENST00000320301.10:c.4542_4556dup	ENSP00000322604.6:p.Glu1519_Asp1520insPheLeuSerAspGlu
ENST00000361849.7:c.4548_4562dup	ENSP00000354950.3:p.Glu1521_Asp1522insPheLeuSerAspGlu
ENST00000373956.7:c.*2497_*2511dup	ENSP00000363067.4:n.*2497_*2511dup
ENST00000373957.7:c.4563_4577dup	ENSP00000363068.4:p.Glu1526_Asp1527insPheLeuSerAspGlu
ENST00000373965.6:c.4373+1952_4373+1966dup	ENSP00000363076.3:n.4373+1952_4373+1966dup
ENST00000395430.5:c.4533_4547dup	ENSP00000378818.1:p.Glu1516_Asp1517insPheLeuSerAspGlu
ENST00000395432.6:c.4422_4436dup	ENSP00000378820.2:p.Glu1479_Asp1480insPheLeuSerAspGlu
ENST00000395433.5:c.4473_4487dup	ENSP00000378821.1:p.Glu1496_Asp1497insPheLeuSerAspGlu
ENST00000395438.5:c.4371+4208_4371+4222dup	ENSP00000378826.2:n.4371+4208_4371+4222dup
ENST00000395440.5:c.1306-13638_1306-13624dup	ENSP00000378827.1:n.1306-13638_1306-13624dup
ENST00000395442.5:c.1099-13638_1099-13624dup	ENSP00000378829.1:n.1099-13638_1099-13624dup
ENST00000395445.5:c.4388+4209_4388+4223dup	ENSP00000378832.2:n.4388+4209_4388+4223dup
ENST00000395446.5:c.2092-13638_2092-13624dup	ENSP00000378833.1:n.2092-13638_2092-13624dup
ENST00000409834.5:c.3206+1952_3206+1966dup	ENSP00000386693.1:n.3206+1952_3206+1966dup
ENST00000414367.5:c.*447+4209_*447+4223dup	ENSP00000412531.1:n.*447+4209_*447+4223dup
ENST00000414778.5:c.4370+4209_4370+4223dup	ENSP00000410304.2:n.4370+4209_4370+4223dup
ENST00000437009.5:c.4335_4349dup	ENSP00000412628.2:p.Glu1450_Asp1451insPheLeuSerAspGlu
ENST00000448885.5:c.*2503_*2517dup	ENSP00000412320.1:n.*2503_*2517dup
ENST00000463095.2:n.1561_1575dup
ENST00000495484.5:c.462-5171_462-5157dup	ENSP00000480780.1:n.462-5171_462-5157dup
ENST00000612394.4:c.4406+4209_4406+4223dup	ENSP00000482921.1:n.4406+4209_4406+4223dup
ENST00000613657.4:c.4409+1952_4409+1966dup	ENSP00000482794.1:n.4409+1952_4409+1966dup
ENST00000614895.4:c.4385+4209_4385+4223dup	ENSP00000478512.1:n.4385+4209_4385+4223dup
ENST00000616114.4:c.4367+4209_4367+4223dup	ENSP00000483745.1:n.4367+4209_4367+4223dup
ENST00000617051.4:c.4569_4583dup	ENSP00000484703.1:p.Glu1528_Asp1529insPheLeuSerAspGlu
ENST00000617271.4:c.4373+1952_4373+1966dup	ENSP00000478076.1:n.4373+1952_4373+1966dup
ENST00000618301.4:c.593+4209_593+4223dup	ENSP00000482780.1:n.593+4209_593+4223dup
ENST00000621708.4:c.4388+1952_4388+1966dup	ENSP00000484454.1:n.4388+1952_4388+1966dup
ENST00000622048.4:c.4341_4355dup	ENSP00000482329.1:p.Glu1452_Asp1453insPheLeuSerAspGlu
NM_001142763.1:c.4563_4577dup	NP_001136235.1:p.Glu1526_Asp1527insPheLeuSerAspGlu
NM_001142764.1:c.4548_4562dup	NP_001136236.1:p.Glu1521_Asp1522insPheLeuSerAspGlu
NM_001142765.1:c.4335_4349dup	NP_001136237.1:p.Glu1450_Asp1451insPheLeuSerAspGlu
NM_001142766.1:c.4533_4547dup	NP_001136238.1:p.Glu1516_Asp1517insPheLeuSerAspGlu
NM_001142767.1:c.4422_4436dup	NP_001136239.1:p.Glu1479_Asp1480insPheLeuSerAspGlu
NM_001142768.1:c.4482_4496dup	NP_001136240.1:p.Glu1499_Asp1500insPheLeuSerAspGlu
NM_001142769.1:c.4409+1952_4409+1966dup	NP_001136241.1:n.4409+1952_4409+1966dup
NM_001142770.1:c.4373+1952_4373+1966dup	NP_001136242.1:n.4373+1952_4373+1966dup
NM_001142771.1:c.4388+1952_4388+1966dup	NP_001136243.1:n.4388+1952_4388+1966dup
NM_001142772.1:c.4373+1952_4373+1966dup	NP_001136244.1:n.4373+1952_4373+1966dup
NM_001142773.1:c.4473_4487dup	NP_001136245.1:p.Glu1496_Asp1497insPheLeuSerAspGlu
NM_033056.3:c.4542_4556dup	NP_149045.3:p.Glu1519_Asp1520insPheLeuSerAspGlu
NM_001142769.2:c.4409+1952_4409+1966dup	NP_001136241.1:n.4409+1952_4409+1966dup
NM_001142770.2:c.4373+1952_4373+1966dup	NP_001136242.1:n.4373+1952_4373+1966dup
NM_001354404.1:c.4476_4490dup	NP_001341333.1:p.Glu1497_Asp1498insPheLeuSerAspGlu
NM_001354411.1:c.4388+4209_4388+4223dup	NP_001341340.1:n.4388+4209_4388+4223dup
NM_001354420.1:c.4367+4209_4367+4223dup	NP_001341349.1:n.4367+4209_4367+4223dup
NM_001354429.1:c.4367+4209_4367+4223dup	NP_001341358.1:n.4367+4209_4367+4223dup
XM_017016573.2:c.4388+1952_4388+1966dup	XP_016872062.1:n.4388+1952_4388+1966dup
XR_001747192.2:n.5555_5569dup
XR_001747193.2:n.5546_5560dup
NM_001142763.2:c.4563_4577dup	NP_001136235.1:p.Glu1526_Asp1527insPheLeuSerAspGlu
NM_001142764.2:c.4548_4562dup	NP_001136236.1:p.Glu1521_Asp1522insPheLeuSerAspGlu
NM_001142765.2:c.4335_4349dup	NP_001136237.1:p.Glu1450_Asp1451insPheLeuSerAspGlu
NM_001142766.2:c.4533_4547dup	NP_001136238.1:p.Glu1516_Asp1517insPheLeuSerAspGlu
NM_001142768.2:c.4482_4496dup	NP_001136240.1:p.Glu1499_Asp1500insPheLeuSerAspGlu
NM_001142769.3:c.4409+1952_4409+1966dup	NP_001136241.1:n.4409+1952_4409+1966dup
NM_001142770.3:c.4373+1952_4373+1966dup	NP_001136242.1:n.4373+1952_4373+1966dup
NM_001142771.2:c.4388+1952_4388+1966dup	NP_001136243.1:n.4388+1952_4388+1966dup
NM_001142772.2:c.4373+1952_4373+1966dup	NP_001136244.1:n.4373+1952_4373+1966dup
NM_001142773.2:c.4473_4487dup	NP_001136245.1:p.Glu1496_Asp1497insPheLeuSerAspGlu
NM_001354411.2:c.4388+4209_4388+4223dup	NP_001341340.1:n.4388+4209_4388+4223dup
NM_001354420.2:c.4367+4209_4367+4223dup	NP_001341349.1:n.4367+4209_4367+4223dup
NM_001354429.2:c.4367+4209_4367+4223dup	NP_001341358.1:n.4367+4209_4367+4223dup
NM_033056.4:c.4542_4556dup MANE Plus Clinical	NP_149045.3:p.Glu1519_Asp1520insPheLeuSerAspGlu
NM_001142767.2:c.4422_4436dup	NP_001136239.1:p.Glu1479_Asp1480insPheLeuSerAspGlu
NM_001354404.2:c.4476_4490dup	NP_001341333.1:p.Glu1497_Asp1498insPheLeuSerAspGlu
NM_001384140.1:c.4368-2954_4368-2940dup MANE Select	NP_001371069.1:n.4368-2954_4368-2940dup