Canonical Allele Identifier: CA2580081674

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1968063
• ClinVar RCV Id: RCV002727229

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823258_53823318dup , CM000672.2:g.53823258_53823318dup	GRCh38
NC_000010.10:g.55583018_55583078dup , CM000672.1:g.55583018_55583078dup	GRCh37
NC_000010.9:g.55253024_55253084dup	NCBI36
NG_009191.2:g.982974_983034dup
NG_009191.3:g.1810865_1810925dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1818_4409+1878dup	ENSP00000482794.1:n.4409+1818_4409+1878dup
ENST00000320301.11:c.4408_4468dup MANE Plus Clinical	ENSP00000322604.6:p.Ile1490LysfsTer22
ENST00000395445.6:c.4388+4075_4388+4135dup	ENSP00000378832.2:n.4388+4075_4388+4135dup
ENST00000613657.5:c.4409+1818_4409+1878dup	ENSP00000482794.1:n.4409+1818_4409+1878dup
ENST00000642496.1:c.3227-3088_3227-3028dup
ENST00000644397.2:c.4368-3088_4368-3028dup MANE Select	ENSP00000495195.1:n.4368-3088_4368-3028dup
ENST00000320301.10:c.4408_4468dup	ENSP00000322604.6:p.Ile1490LysfsTer22
ENST00000361849.7:c.4414_4474dup	ENSP00000354950.3:p.Ile1492LysfsTer22
ENST00000373956.7:c.*2363_*2423dup	ENSP00000363067.4:n.*2363_*2423dup
ENST00000373957.7:c.4429_4489dup	ENSP00000363068.4:p.Ile1497LysfsTer22
ENST00000373965.6:c.4373+1818_4373+1878dup	ENSP00000363076.3:n.4373+1818_4373+1878dup
ENST00000395430.5:c.4399_4459dup	ENSP00000378818.1:p.Ile1487LysfsTer22
ENST00000395432.6:c.4288_4348dup	ENSP00000378820.2:p.Ile1450LysfsTer22
ENST00000395433.5:c.4339_4399dup	ENSP00000378821.1:p.Ile1467LysfsTer22
ENST00000395438.5:c.4371+4074_4371+4134dup	ENSP00000378826.2:n.4371+4074_4371+4134dup
ENST00000395440.5:c.1306-13772_1306-13712dup	ENSP00000378827.1:n.1306-13772_1306-13712dup
ENST00000395442.5:c.1099-13772_1099-13712dup	ENSP00000378829.1:n.1099-13772_1099-13712dup
ENST00000395445.5:c.4388+4075_4388+4135dup	ENSP00000378832.2:n.4388+4075_4388+4135dup
ENST00000395446.5:c.2092-13772_2092-13712dup	ENSP00000378833.1:n.2092-13772_2092-13712dup
ENST00000409834.5:c.3206+1818_3206+1878dup	ENSP00000386693.1:n.3206+1818_3206+1878dup
ENST00000414367.5:c.*447+4075_*447+4135dup	ENSP00000412531.1:n.*447+4075_*447+4135dup
ENST00000414778.5:c.4370+4075_4370+4135dup	ENSP00000410304.2:n.4370+4075_4370+4135dup
ENST00000437009.5:c.4201_4261dup	ENSP00000412628.2:p.Ile1421LysfsTer22
ENST00000448885.5:c.*2369_*2429dup	ENSP00000412320.1:n.*2369_*2429dup
ENST00000463095.2:n.1427_1487dup
ENST00000495484.5:c.462-5305_462-5245dup	ENSP00000480780.1:n.462-5305_462-5245dup
ENST00000612394.4:c.4406+4075_4406+4135dup	ENSP00000482921.1:n.4406+4075_4406+4135dup
ENST00000613657.4:c.4409+1818_4409+1878dup	ENSP00000482794.1:n.4409+1818_4409+1878dup
ENST00000614895.4:c.4385+4075_4385+4135dup	ENSP00000478512.1:n.4385+4075_4385+4135dup
ENST00000616114.4:c.4367+4075_4367+4135dup	ENSP00000483745.1:n.4367+4075_4367+4135dup
ENST00000617051.4:c.4435_4495dup	ENSP00000484703.1:p.Ile1499LysfsTer22
ENST00000617271.4:c.4373+1818_4373+1878dup	ENSP00000478076.1:n.4373+1818_4373+1878dup
ENST00000618301.4:c.593+4075_593+4135dup	ENSP00000482780.1:n.593+4075_593+4135dup
ENST00000621708.4:c.4388+1818_4388+1878dup	ENSP00000484454.1:n.4388+1818_4388+1878dup
ENST00000622048.4:c.4207_4267dup	ENSP00000482329.1:p.Ile1423LysfsTer22
NM_001142763.1:c.4429_4489dup	NP_001136235.1:p.Ile1497LysfsTer22
NM_001142764.1:c.4414_4474dup	NP_001136236.1:p.Ile1492LysfsTer22
NM_001142765.1:c.4201_4261dup	NP_001136237.1:p.Ile1421LysfsTer22
NM_001142766.1:c.4399_4459dup	NP_001136238.1:p.Ile1487LysfsTer22
NM_001142767.1:c.4288_4348dup	NP_001136239.1:p.Ile1450LysfsTer22
NM_001142768.1:c.4348_4408dup	NP_001136240.1:p.Ile1470LysfsTer22
NM_001142769.1:c.4409+1818_4409+1878dup	NP_001136241.1:n.4409+1818_4409+1878dup
NM_001142770.1:c.4373+1818_4373+1878dup	NP_001136242.1:n.4373+1818_4373+1878dup
NM_001142771.1:c.4388+1818_4388+1878dup	NP_001136243.1:n.4388+1818_4388+1878dup
NM_001142772.1:c.4373+1818_4373+1878dup	NP_001136244.1:n.4373+1818_4373+1878dup
NM_001142773.1:c.4339_4399dup	NP_001136245.1:p.Ile1467LysfsTer22
NM_033056.3:c.4408_4468dup	NP_149045.3:p.Ile1490LysfsTer22
NM_001142769.2:c.4409+1818_4409+1878dup	NP_001136241.1:n.4409+1818_4409+1878dup
NM_001142770.2:c.4373+1818_4373+1878dup	NP_001136242.1:n.4373+1818_4373+1878dup
NM_001354404.1:c.4342_4402dup	NP_001341333.1:p.Ile1468LysfsTer22
NM_001354411.1:c.4388+4075_4388+4135dup	NP_001341340.1:n.4388+4075_4388+4135dup
NM_001354420.1:c.4367+4075_4367+4135dup	NP_001341349.1:n.4367+4075_4367+4135dup
NM_001354429.1:c.4367+4075_4367+4135dup	NP_001341358.1:n.4367+4075_4367+4135dup
XM_017016573.2:c.4388+1818_4388+1878dup	XP_016872062.1:n.4388+1818_4388+1878dup
XR_001747192.2:n.5421_5481dup
XR_001747193.2:n.5412_5472dup
NM_001142763.2:c.4429_4489dup	NP_001136235.1:p.Ile1497LysfsTer22
NM_001142764.2:c.4414_4474dup	NP_001136236.1:p.Ile1492LysfsTer22
NM_001142765.2:c.4201_4261dup	NP_001136237.1:p.Ile1421LysfsTer22
NM_001142766.2:c.4399_4459dup	NP_001136238.1:p.Ile1487LysfsTer22
NM_001142768.2:c.4348_4408dup	NP_001136240.1:p.Ile1470LysfsTer22
NM_001142769.3:c.4409+1818_4409+1878dup	NP_001136241.1:n.4409+1818_4409+1878dup
NM_001142770.3:c.4373+1818_4373+1878dup	NP_001136242.1:n.4373+1818_4373+1878dup
NM_001142771.2:c.4388+1818_4388+1878dup	NP_001136243.1:n.4388+1818_4388+1878dup
NM_001142772.2:c.4373+1818_4373+1878dup	NP_001136244.1:n.4373+1818_4373+1878dup
NM_001142773.2:c.4339_4399dup	NP_001136245.1:p.Ile1467LysfsTer22
NM_001354411.2:c.4388+4075_4388+4135dup	NP_001341340.1:n.4388+4075_4388+4135dup
NM_001354420.2:c.4367+4075_4367+4135dup	NP_001341349.1:n.4367+4075_4367+4135dup
NM_001354429.2:c.4367+4075_4367+4135dup	NP_001341358.1:n.4367+4075_4367+4135dup
NM_033056.4:c.4408_4468dup MANE Plus Clinical	NP_149045.3:p.Ile1490LysfsTer22
NM_001142767.2:c.4288_4348dup	NP_001136239.1:p.Ile1450LysfsTer22
NM_001354404.2:c.4342_4402dup	NP_001341333.1:p.Ile1468LysfsTer22
NM_001384140.1:c.4368-3088_4368-3028dup MANE Select	NP_001371069.1:n.4368-3088_4368-3028dup