Canonical Allele Identifier: CA658823211

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 555929
• ClinVar RCV Id: RCV000671849
• dbSNP Id: rs1554820916
• MyVariant Identifiers: chr10:g.53823173_53823180dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823173_53823180dup , CM000672.2:g.53823173_53823180dup	GRCh38
NC_000010.10:g.55582933_55582940dup , CM000672.1:g.55582933_55582940dup	GRCh37
NC_000010.9:g.55252939_55252946dup	NCBI36
NG_009191.2:g.983112_983119dup
NG_009191.3:g.1811003_1811010dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+1956_4409+1963dup	ENSP00000482794.1:n.4409+1956_4409+1963dup
ENST00000320301.11:c.4546_4553dup MANE Plus Clinical	ENSP00000322604.6:p.Glu1519TyrfsTer7
ENST00000395445.6:c.4388+4213_4388+4220dup	ENSP00000378832.2:n.4388+4213_4388+4220dup
ENST00000613657.5:c.4409+1956_4409+1963dup	ENSP00000482794.1:n.4409+1956_4409+1963dup
ENST00000642496.1:c.3227-2950_3227-2943dup
ENST00000644397.2:c.4368-2950_4368-2943dup MANE Select	ENSP00000495195.1:n.4368-2950_4368-2943dup
ENST00000320301.10:c.4546_4553dup	ENSP00000322604.6:p.Glu1519TyrfsTer7
ENST00000361849.7:c.4552_4559dup	ENSP00000354950.3:p.Glu1521TyrfsTer7
ENST00000373956.7:c.*2501_*2508dup	ENSP00000363067.4:n.*2501_*2508dup
ENST00000373957.7:c.4567_4574dup	ENSP00000363068.4:p.Glu1526TyrfsTer7
ENST00000373965.6:c.4373+1956_4373+1963dup	ENSP00000363076.3:n.4373+1956_4373+1963dup
ENST00000395430.5:c.4537_4544dup	ENSP00000378818.1:p.Glu1516TyrfsTer7
ENST00000395432.6:c.4426_4433dup	ENSP00000378820.2:p.Glu1479TyrfsTer7
ENST00000395433.5:c.4477_4484dup	ENSP00000378821.1:p.Glu1496TyrfsTer7
ENST00000395438.5:c.4371+4212_4371+4219dup	ENSP00000378826.2:n.4371+4212_4371+4219dup
ENST00000395440.5:c.1306-13634_1306-13627dup	ENSP00000378827.1:n.1306-13634_1306-13627dup
ENST00000395442.5:c.1099-13634_1099-13627dup	ENSP00000378829.1:n.1099-13634_1099-13627dup
ENST00000395445.5:c.4388+4213_4388+4220dup	ENSP00000378832.2:n.4388+4213_4388+4220dup
ENST00000395446.5:c.2092-13634_2092-13627dup	ENSP00000378833.1:n.2092-13634_2092-13627dup
ENST00000409834.5:c.3206+1956_3206+1963dup	ENSP00000386693.1:n.3206+1956_3206+1963dup
ENST00000414367.5:c.*447+4213_*447+4220dup	ENSP00000412531.1:n.*447+4213_*447+4220dup
ENST00000414778.5:c.4370+4213_4370+4220dup	ENSP00000410304.2:n.4370+4213_4370+4220dup
ENST00000437009.5:c.4339_4346dup	ENSP00000412628.2:p.Glu1450TyrfsTer7
ENST00000448885.5:c.*2507_*2514dup	ENSP00000412320.1:n.*2507_*2514dup
ENST00000463095.2:n.1565_1572dup
ENST00000495484.5:c.462-5167_462-5160dup	ENSP00000480780.1:n.462-5167_462-5160dup
ENST00000612394.4:c.4406+4213_4406+4220dup	ENSP00000482921.1:n.4406+4213_4406+4220dup
ENST00000613657.4:c.4409+1956_4409+1963dup	ENSP00000482794.1:n.4409+1956_4409+1963dup
ENST00000614895.4:c.4385+4213_4385+4220dup	ENSP00000478512.1:n.4385+4213_4385+4220dup
ENST00000616114.4:c.4367+4213_4367+4220dup	ENSP00000483745.1:n.4367+4213_4367+4220dup
ENST00000617051.4:c.4573_4580dup	ENSP00000484703.1:p.Glu1528TyrfsTer7
ENST00000617271.4:c.4373+1956_4373+1963dup	ENSP00000478076.1:n.4373+1956_4373+1963dup
ENST00000618301.4:c.593+4213_593+4220dup	ENSP00000482780.1:n.593+4213_593+4220dup
ENST00000621708.4:c.4388+1956_4388+1963dup	ENSP00000484454.1:n.4388+1956_4388+1963dup
ENST00000622048.4:c.4345_4352dup	ENSP00000482329.1:p.Glu1452TyrfsTer7
NM_001142763.1:c.4567_4574dup	NP_001136235.1:p.Glu1526TyrfsTer7
NM_001142764.1:c.4552_4559dup	NP_001136236.1:p.Glu1521TyrfsTer7
NM_001142765.1:c.4339_4346dup	NP_001136237.1:p.Glu1450TyrfsTer7
NM_001142766.1:c.4537_4544dup	NP_001136238.1:p.Glu1516TyrfsTer7
NM_001142767.1:c.4426_4433dup	NP_001136239.1:p.Glu1479TyrfsTer7
NM_001142768.1:c.4486_4493dup	NP_001136240.1:p.Glu1499TyrfsTer7
NM_001142769.1:c.4409+1956_4409+1963dup	NP_001136241.1:n.4409+1956_4409+1963dup
NM_001142770.1:c.4373+1956_4373+1963dup	NP_001136242.1:n.4373+1956_4373+1963dup
NM_001142771.1:c.4388+1956_4388+1963dup	NP_001136243.1:n.4388+1956_4388+1963dup
NM_001142772.1:c.4373+1956_4373+1963dup	NP_001136244.1:n.4373+1956_4373+1963dup
NM_001142773.1:c.4477_4484dup	NP_001136245.1:p.Glu1496TyrfsTer7
NM_033056.3:c.4546_4553dup	NP_149045.3:p.Glu1519TyrfsTer7
NM_001142769.2:c.4409+1956_4409+1963dup	NP_001136241.1:n.4409+1956_4409+1963dup
NM_001142770.2:c.4373+1956_4373+1963dup	NP_001136242.1:n.4373+1956_4373+1963dup
NM_001354404.1:c.4480_4487dup	NP_001341333.1:p.Glu1497TyrfsTer7
NM_001354411.1:c.4388+4213_4388+4220dup	NP_001341340.1:n.4388+4213_4388+4220dup
NM_001354420.1:c.4367+4213_4367+4220dup	NP_001341349.1:n.4367+4213_4367+4220dup
NM_001354429.1:c.4367+4213_4367+4220dup	NP_001341358.1:n.4367+4213_4367+4220dup
XM_017016573.2:c.4388+1956_4388+1963dup	XP_016872062.1:n.4388+1956_4388+1963dup
XR_001747192.2:n.5559_5566dup
XR_001747193.2:n.5550_5557dup
NM_001142763.2:c.4567_4574dup	NP_001136235.1:p.Glu1526TyrfsTer7
NM_001142764.2:c.4552_4559dup	NP_001136236.1:p.Glu1521TyrfsTer7
NM_001142765.2:c.4339_4346dup	NP_001136237.1:p.Glu1450TyrfsTer7
NM_001142766.2:c.4537_4544dup	NP_001136238.1:p.Glu1516TyrfsTer7
NM_001142768.2:c.4486_4493dup	NP_001136240.1:p.Glu1499TyrfsTer7
NM_001142769.3:c.4409+1956_4409+1963dup	NP_001136241.1:n.4409+1956_4409+1963dup
NM_001142770.3:c.4373+1956_4373+1963dup	NP_001136242.1:n.4373+1956_4373+1963dup
NM_001142771.2:c.4388+1956_4388+1963dup	NP_001136243.1:n.4388+1956_4388+1963dup
NM_001142772.2:c.4373+1956_4373+1963dup	NP_001136244.1:n.4373+1956_4373+1963dup
NM_001142773.2:c.4477_4484dup	NP_001136245.1:p.Glu1496TyrfsTer7
NM_001354411.2:c.4388+4213_4388+4220dup	NP_001341340.1:n.4388+4213_4388+4220dup
NM_001354420.2:c.4367+4213_4367+4220dup	NP_001341349.1:n.4367+4213_4367+4220dup
NM_001354429.2:c.4367+4213_4367+4220dup	NP_001341358.1:n.4367+4213_4367+4220dup
NM_033056.4:c.4546_4553dup MANE Plus Clinical	NP_149045.3:p.Glu1519TyrfsTer7
NM_001142767.2:c.4426_4433dup	NP_001136239.1:p.Glu1479TyrfsTer7
NM_001354404.2:c.4480_4487dup	NP_001341333.1:p.Glu1497TyrfsTer7
NM_001384140.1:c.4368-2950_4368-2943dup MANE Select	NP_001371069.1:n.4368-2950_4368-2943dup