Canonical Allele Identifier: CA2609212708

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53823232-T-TACATGAGCTGACTTGTGAGCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823234_53823256dup , CM000672.2:g.53823234_53823256dup	GRCh38
NC_000010.10:g.55582994_55583016dup , CM000672.1:g.55582994_55583016dup	GRCh37
NC_000010.9:g.55253000_55253022dup	NCBI36
NG_009191.2:g.983037_983059dup
NG_009191.3:g.1810928_1810950dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1881_4409+1903dup	ENSP00000482794.1:n.4409+1881_4409+1903dup
ENST00000320301.11:c.4471_4493dup MANE Plus Clinical	ENSP00000322604.6:p.Asp1499ArgfsTer8
ENST00000395445.6:c.4388+4138_4388+4160dup	ENSP00000378832.2:n.4388+4138_4388+4160dup
ENST00000613657.5:c.4409+1881_4409+1903dup	ENSP00000482794.1:n.4409+1881_4409+1903dup
ENST00000642496.1:c.3227-3025_3227-3003dup
ENST00000644397.2:c.4368-3025_4368-3003dup MANE Select	ENSP00000495195.1:n.4368-3025_4368-3003dup
ENST00000320301.10:c.4471_4493dup	ENSP00000322604.6:p.Asp1499ArgfsTer8
ENST00000361849.7:c.4477_4499dup	ENSP00000354950.3:p.Asp1501ArgfsTer8
ENST00000373956.7:c.*2426_*2448dup	ENSP00000363067.4:n.*2426_*2448dup
ENST00000373957.7:c.4492_4514dup	ENSP00000363068.4:p.Asp1506ArgfsTer8
ENST00000373965.6:c.4373+1881_4373+1903dup	ENSP00000363076.3:n.4373+1881_4373+1903dup
ENST00000395430.5:c.4462_4484dup	ENSP00000378818.1:p.Asp1496ArgfsTer8
ENST00000395432.6:c.4351_4373dup	ENSP00000378820.2:p.Asp1459ArgfsTer8
ENST00000395433.5:c.4402_4424dup	ENSP00000378821.1:p.Asp1476ArgfsTer8
ENST00000395438.5:c.4371+4137_4371+4159dup	ENSP00000378826.2:n.4371+4137_4371+4159dup
ENST00000395440.5:c.1306-13709_1306-13687dup	ENSP00000378827.1:n.1306-13709_1306-13687dup
ENST00000395442.5:c.1099-13709_1099-13687dup	ENSP00000378829.1:n.1099-13709_1099-13687dup
ENST00000395445.5:c.4388+4138_4388+4160dup	ENSP00000378832.2:n.4388+4138_4388+4160dup
ENST00000395446.5:c.2092-13709_2092-13687dup	ENSP00000378833.1:n.2092-13709_2092-13687dup
ENST00000409834.5:c.3206+1881_3206+1903dup	ENSP00000386693.1:n.3206+1881_3206+1903dup
ENST00000414367.5:c.*447+4138_*447+4160dup	ENSP00000412531.1:n.*447+4138_*447+4160dup
ENST00000414778.5:c.4370+4138_4370+4160dup	ENSP00000410304.2:n.4370+4138_4370+4160dup
ENST00000437009.5:c.4264_4286dup	ENSP00000412628.2:p.Asp1430ArgfsTer8
ENST00000448885.5:c.*2432_*2454dup	ENSP00000412320.1:n.*2432_*2454dup
ENST00000463095.2:n.1490_1512dup
ENST00000495484.5:c.462-5242_462-5220dup	ENSP00000480780.1:n.462-5242_462-5220dup
ENST00000612394.4:c.4406+4138_4406+4160dup	ENSP00000482921.1:n.4406+4138_4406+4160dup
ENST00000613657.4:c.4409+1881_4409+1903dup	ENSP00000482794.1:n.4409+1881_4409+1903dup
ENST00000614895.4:c.4385+4138_4385+4160dup	ENSP00000478512.1:n.4385+4138_4385+4160dup
ENST00000616114.4:c.4367+4138_4367+4160dup	ENSP00000483745.1:n.4367+4138_4367+4160dup
ENST00000617051.4:c.4498_4520dup	ENSP00000484703.1:p.Asp1508ArgfsTer8
ENST00000617271.4:c.4373+1881_4373+1903dup	ENSP00000478076.1:n.4373+1881_4373+1903dup
ENST00000618301.4:c.593+4138_593+4160dup	ENSP00000482780.1:n.593+4138_593+4160dup
ENST00000621708.4:c.4388+1881_4388+1903dup	ENSP00000484454.1:n.4388+1881_4388+1903dup
ENST00000622048.4:c.4270_4292dup	ENSP00000482329.1:p.Asp1432ArgfsTer8
NM_001142763.1:c.4492_4514dup	NP_001136235.1:p.Asp1506ArgfsTer8
NM_001142764.1:c.4477_4499dup	NP_001136236.1:p.Asp1501ArgfsTer8
NM_001142765.1:c.4264_4286dup	NP_001136237.1:p.Asp1430ArgfsTer8
NM_001142766.1:c.4462_4484dup	NP_001136238.1:p.Asp1496ArgfsTer8
NM_001142767.1:c.4351_4373dup	NP_001136239.1:p.Asp1459ArgfsTer8
NM_001142768.1:c.4411_4433dup	NP_001136240.1:p.Asp1479ArgfsTer8
NM_001142769.1:c.4409+1881_4409+1903dup	NP_001136241.1:n.4409+1881_4409+1903dup
NM_001142770.1:c.4373+1881_4373+1903dup	NP_001136242.1:n.4373+1881_4373+1903dup
NM_001142771.1:c.4388+1881_4388+1903dup	NP_001136243.1:n.4388+1881_4388+1903dup
NM_001142772.1:c.4373+1881_4373+1903dup	NP_001136244.1:n.4373+1881_4373+1903dup
NM_001142773.1:c.4402_4424dup	NP_001136245.1:p.Asp1476ArgfsTer8
NM_033056.3:c.4471_4493dup	NP_149045.3:p.Asp1499ArgfsTer8
NM_001142769.2:c.4409+1881_4409+1903dup	NP_001136241.1:n.4409+1881_4409+1903dup
NM_001142770.2:c.4373+1881_4373+1903dup	NP_001136242.1:n.4373+1881_4373+1903dup
NM_001354404.1:c.4405_4427dup	NP_001341333.1:p.Asp1477ArgfsTer8
NM_001354411.1:c.4388+4138_4388+4160dup	NP_001341340.1:n.4388+4138_4388+4160dup
NM_001354420.1:c.4367+4138_4367+4160dup	NP_001341349.1:n.4367+4138_4367+4160dup
NM_001354429.1:c.4367+4138_4367+4160dup	NP_001341358.1:n.4367+4138_4367+4160dup
XM_017016573.2:c.4388+1881_4388+1903dup	XP_016872062.1:n.4388+1881_4388+1903dup
XR_001747192.2:n.5484_5506dup
XR_001747193.2:n.5475_5497dup
NM_001142763.2:c.4492_4514dup	NP_001136235.1:p.Asp1506ArgfsTer8
NM_001142764.2:c.4477_4499dup	NP_001136236.1:p.Asp1501ArgfsTer8
NM_001142765.2:c.4264_4286dup	NP_001136237.1:p.Asp1430ArgfsTer8
NM_001142766.2:c.4462_4484dup	NP_001136238.1:p.Asp1496ArgfsTer8
NM_001142768.2:c.4411_4433dup	NP_001136240.1:p.Asp1479ArgfsTer8
NM_001142769.3:c.4409+1881_4409+1903dup	NP_001136241.1:n.4409+1881_4409+1903dup
NM_001142770.3:c.4373+1881_4373+1903dup	NP_001136242.1:n.4373+1881_4373+1903dup
NM_001142771.2:c.4388+1881_4388+1903dup	NP_001136243.1:n.4388+1881_4388+1903dup
NM_001142772.2:c.4373+1881_4373+1903dup	NP_001136244.1:n.4373+1881_4373+1903dup
NM_001142773.2:c.4402_4424dup	NP_001136245.1:p.Asp1476ArgfsTer8
NM_001354411.2:c.4388+4138_4388+4160dup	NP_001341340.1:n.4388+4138_4388+4160dup
NM_001354420.2:c.4367+4138_4367+4160dup	NP_001341349.1:n.4367+4138_4367+4160dup
NM_001354429.2:c.4367+4138_4367+4160dup	NP_001341358.1:n.4367+4138_4367+4160dup
NM_033056.4:c.4471_4493dup MANE Plus Clinical	NP_149045.3:p.Asp1499ArgfsTer8
NM_001142767.2:c.4351_4373dup	NP_001136239.1:p.Asp1459ArgfsTer8
NM_001354404.2:c.4405_4427dup	NP_001341333.1:p.Asp1477ArgfsTer8
NM_001384140.1:c.4368-3025_4368-3003dup MANE Select	NP_001371069.1:n.4368-3025_4368-3003dup