Canonical Allele Identifier: CA1910741632

Gene: PCDH15

Linked Data

• dbSNP Id: rs1554820894

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823161_53823166dup , CM000672.2:g.53823161_53823166dup	GRCh38
NC_000010.10:g.55582921_55582926dup , CM000672.1:g.55582921_55582926dup	GRCh37
NC_000010.9:g.55252927_55252932dup	NCBI36
NG_009191.2:g.983126_983131dup
NG_009191.3:g.1811017_1811022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1970_4409+1975dup	ENSP00000482794.1:n.4409+1970_4409+1975dup
ENST00000320301.11:c.4560_4565dup MANE Plus Clinical	ENSP00000322604.6:p.Asp1521_Leu1522insPheAsp
ENST00000395445.6:c.4388+4227_4388+4232dup	ENSP00000378832.2:n.4388+4227_4388+4232dup
ENST00000613657.5:c.4409+1970_4409+1975dup	ENSP00000482794.1:n.4409+1970_4409+1975dup
ENST00000642496.1:c.3227-2936_3227-2931dup
ENST00000644397.2:c.4368-2936_4368-2931dup MANE Select	ENSP00000495195.1:n.4368-2936_4368-2931dup
ENST00000320301.10:c.4560_4565dup	ENSP00000322604.6:p.Asp1521_Leu1522insPheAsp
ENST00000361849.7:c.4566_4571dup	ENSP00000354950.3:p.Asp1523_Leu1524insPheAsp
ENST00000373956.7:c.*2515_*2520dup	ENSP00000363067.4:n.*2515_*2520dup
ENST00000373957.7:c.4581_4586dup	ENSP00000363068.4:p.Asp1528_Leu1529insPheAsp
ENST00000373965.6:c.4373+1970_4373+1975dup	ENSP00000363076.3:n.4373+1970_4373+1975dup
ENST00000395430.5:c.4551_4556dup	ENSP00000378818.1:p.Asp1518_Leu1519insPheAsp
ENST00000395432.6:c.4440_4445dup	ENSP00000378820.2:p.Asp1481_Leu1482insPheAsp
ENST00000395433.5:c.4491_4496dup	ENSP00000378821.1:p.Asp1498_Leu1499insPheAsp
ENST00000395438.5:c.4371+4226_4371+4231dup	ENSP00000378826.2:n.4371+4226_4371+4231dup
ENST00000395440.5:c.1306-13620_1306-13615dup	ENSP00000378827.1:n.1306-13620_1306-13615dup
ENST00000395442.5:c.1099-13620_1099-13615dup	ENSP00000378829.1:n.1099-13620_1099-13615dup
ENST00000395445.5:c.4388+4227_4388+4232dup	ENSP00000378832.2:n.4388+4227_4388+4232dup
ENST00000395446.5:c.2092-13620_2092-13615dup	ENSP00000378833.1:n.2092-13620_2092-13615dup
ENST00000409834.5:c.3206+1970_3206+1975dup	ENSP00000386693.1:n.3206+1970_3206+1975dup
ENST00000414367.5:c.*447+4227_*447+4232dup	ENSP00000412531.1:n.*447+4227_*447+4232dup
ENST00000414778.5:c.4370+4227_4370+4232dup	ENSP00000410304.2:n.4370+4227_4370+4232dup
ENST00000437009.5:c.4353_4358dup	ENSP00000412628.2:p.Asp1452_Leu1453insPheAsp
ENST00000448885.5:c.*2521_*2526dup	ENSP00000412320.1:n.*2521_*2526dup
ENST00000463095.2:n.1579_1584dup
ENST00000495484.5:c.462-5153_462-5148dup	ENSP00000480780.1:n.462-5153_462-5148dup
ENST00000612394.4:c.4406+4227_4406+4232dup	ENSP00000482921.1:n.4406+4227_4406+4232dup
ENST00000613657.4:c.4409+1970_4409+1975dup	ENSP00000482794.1:n.4409+1970_4409+1975dup
ENST00000614895.4:c.4385+4227_4385+4232dup	ENSP00000478512.1:n.4385+4227_4385+4232dup
ENST00000616114.4:c.4367+4227_4367+4232dup	ENSP00000483745.1:n.4367+4227_4367+4232dup
ENST00000617051.4:c.4587_4592dup	ENSP00000484703.1:p.Asp1530_Leu1531insPheAsp
ENST00000617271.4:c.4373+1970_4373+1975dup	ENSP00000478076.1:n.4373+1970_4373+1975dup
ENST00000618301.4:c.593+4227_593+4232dup	ENSP00000482780.1:n.593+4227_593+4232dup
ENST00000621708.4:c.4388+1970_4388+1975dup	ENSP00000484454.1:n.4388+1970_4388+1975dup
ENST00000622048.4:c.4359_4364dup	ENSP00000482329.1:p.Asp1454_Leu1455insPheAsp
NM_001142763.1:c.4581_4586dup	NP_001136235.1:p.Asp1528_Leu1529insPheAsp
NM_001142764.1:c.4566_4571dup	NP_001136236.1:p.Asp1523_Leu1524insPheAsp
NM_001142765.1:c.4353_4358dup	NP_001136237.1:p.Asp1452_Leu1453insPheAsp
NM_001142766.1:c.4551_4556dup	NP_001136238.1:p.Asp1518_Leu1519insPheAsp
NM_001142767.1:c.4440_4445dup	NP_001136239.1:p.Asp1481_Leu1482insPheAsp
NM_001142768.1:c.4500_4505dup	NP_001136240.1:p.Asp1501_Leu1502insPheAsp
NM_001142769.1:c.4409+1970_4409+1975dup	NP_001136241.1:n.4409+1970_4409+1975dup
NM_001142770.1:c.4373+1970_4373+1975dup	NP_001136242.1:n.4373+1970_4373+1975dup
NM_001142771.1:c.4388+1970_4388+1975dup	NP_001136243.1:n.4388+1970_4388+1975dup
NM_001142772.1:c.4373+1970_4373+1975dup	NP_001136244.1:n.4373+1970_4373+1975dup
NM_001142773.1:c.4491_4496dup	NP_001136245.1:p.Asp1498_Leu1499insPheAsp
NM_033056.3:c.4560_4565dup	NP_149045.3:p.Asp1521_Leu1522insPheAsp
NM_001142769.2:c.4409+1970_4409+1975dup	NP_001136241.1:n.4409+1970_4409+1975dup
NM_001142770.2:c.4373+1970_4373+1975dup	NP_001136242.1:n.4373+1970_4373+1975dup
NM_001354404.1:c.4494_4499dup	NP_001341333.1:p.Asp1499_Leu1500insPheAsp
NM_001354411.1:c.4388+4227_4388+4232dup	NP_001341340.1:n.4388+4227_4388+4232dup
NM_001354420.1:c.4367+4227_4367+4232dup	NP_001341349.1:n.4367+4227_4367+4232dup
NM_001354429.1:c.4367+4227_4367+4232dup	NP_001341358.1:n.4367+4227_4367+4232dup
XM_017016573.2:c.4388+1970_4388+1975dup	XP_016872062.1:n.4388+1970_4388+1975dup
XR_001747192.2:n.5573_5578dup
XR_001747193.2:n.5564_5569dup
NM_001142763.2:c.4581_4586dup	NP_001136235.1:p.Asp1528_Leu1529insPheAsp
NM_001142764.2:c.4566_4571dup	NP_001136236.1:p.Asp1523_Leu1524insPheAsp
NM_001142765.2:c.4353_4358dup	NP_001136237.1:p.Asp1452_Leu1453insPheAsp
NM_001142766.2:c.4551_4556dup	NP_001136238.1:p.Asp1518_Leu1519insPheAsp
NM_001142768.2:c.4500_4505dup	NP_001136240.1:p.Asp1501_Leu1502insPheAsp
NM_001142769.3:c.4409+1970_4409+1975dup	NP_001136241.1:n.4409+1970_4409+1975dup
NM_001142770.3:c.4373+1970_4373+1975dup	NP_001136242.1:n.4373+1970_4373+1975dup
NM_001142771.2:c.4388+1970_4388+1975dup	NP_001136243.1:n.4388+1970_4388+1975dup
NM_001142772.2:c.4373+1970_4373+1975dup	NP_001136244.1:n.4373+1970_4373+1975dup
NM_001142773.2:c.4491_4496dup	NP_001136245.1:p.Asp1498_Leu1499insPheAsp
NM_001354411.2:c.4388+4227_4388+4232dup	NP_001341340.1:n.4388+4227_4388+4232dup
NM_001354420.2:c.4367+4227_4367+4232dup	NP_001341349.1:n.4367+4227_4367+4232dup
NM_001354429.2:c.4367+4227_4367+4232dup	NP_001341358.1:n.4367+4227_4367+4232dup
NM_033056.4:c.4560_4565dup MANE Plus Clinical	NP_149045.3:p.Asp1521_Leu1522insPheAsp
NM_001142767.2:c.4440_4445dup	NP_001136239.1:p.Asp1481_Leu1482insPheAsp
NM_001354404.2:c.4494_4499dup	NP_001341333.1:p.Asp1499_Leu1500insPheAsp
NM_001384140.1:c.4368-2936_4368-2931dup MANE Select	NP_001371069.1:n.4368-2936_4368-2931dup