Canonical Allele Identifier: CA2573145197

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1648035
• ClinVar RCV Id: RCV002140975
• dbSNP Id: rs2132492597

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822435_53822499dup , CM000672.2:g.53822435_53822499dup	GRCh38
NC_000010.10:g.55582195_55582259dup , CM000672.1:g.55582195_55582259dup	GRCh37
NC_000010.9:g.55252201_55252265dup	NCBI36
NG_009191.2:g.983796_983860dup
NG_009191.3:g.1811687_1811751dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+2640_4409+2704dup	ENSP00000482794.1:n.4409+2640_4409+2704dup
ENST00000320301.11:c.5230_5294dup MANE Plus Clinical	ENSP00000322604.6:p.Ala1766ProfsTer?
ENST00000395445.6:c.4388+4897_4388+4961dup	ENSP00000378832.2:n.4388+4897_4388+4961dup
ENST00000613657.5:c.4409+2640_4409+2704dup	ENSP00000482794.1:n.4409+2640_4409+2704dup
ENST00000642496.1:c.3227-2266_3227-2202dup
ENST00000644397.2:c.4368-2266_4368-2202dup MANE Select	ENSP00000495195.1:n.4368-2266_4368-2202dup
ENST00000320301.10:c.5230_5294dup	ENSP00000322604.6:p.Ala1766ProfsTer?
ENST00000361849.7:c.5236_5300dup	ENSP00000354950.3:p.Ala1768ProfsTer?
ENST00000373956.7:c.*3185_*3249dup	ENSP00000363067.4:n.*3185_*3249dup
ENST00000373957.7:c.5251_5315dup	ENSP00000363068.4:p.Ala1773ProfsTer?
ENST00000373965.6:c.4373+2640_4373+2704dup	ENSP00000363076.3:n.4373+2640_4373+2704dup
ENST00000395430.5:c.5221_5285dup	ENSP00000378818.1:p.Ala1763ProfsTer?
ENST00000395432.6:c.5110_5174dup	ENSP00000378820.2:p.Ala1726ProfsTer?
ENST00000395433.5:c.5161_5225dup	ENSP00000378821.1:p.Ala1743ProfsTer?
ENST00000395438.5:c.4371+4896_4371+4960dup	ENSP00000378826.2:n.4371+4896_4371+4960dup
ENST00000395440.5:c.1306-12950_1306-12886dup	ENSP00000378827.1:n.1306-12950_1306-12886dup
ENST00000395442.5:c.1099-12950_1099-12886dup	ENSP00000378829.1:n.1099-12950_1099-12886dup
ENST00000395445.5:c.4388+4897_4388+4961dup	ENSP00000378832.2:n.4388+4897_4388+4961dup
ENST00000395446.5:c.2092-12950_2092-12886dup	ENSP00000378833.1:n.2092-12950_2092-12886dup
ENST00000409834.5:c.3206+2640_3206+2704dup	ENSP00000386693.1:n.3206+2640_3206+2704dup
ENST00000414367.5:c.*447+4897_*447+4961dup	ENSP00000412531.1:n.*447+4897_*447+4961dup
ENST00000414778.5:c.4370+4897_4370+4961dup	ENSP00000410304.2:n.4370+4897_4370+4961dup
ENST00000437009.5:c.5023_5087dup	ENSP00000412628.2:p.Ala1697ProfsTer?
ENST00000448885.5:c.*3191_*3255dup	ENSP00000412320.1:n.*3191_*3255dup
ENST00000463095.2:n.2249_2313dup
ENST00000495484.5:c.462-4483_462-4419dup	ENSP00000480780.1:n.462-4483_462-4419dup
ENST00000612394.4:c.4406+4897_4406+4961dup	ENSP00000482921.1:n.4406+4897_4406+4961dup
ENST00000613657.4:c.4409+2640_4409+2704dup	ENSP00000482794.1:n.4409+2640_4409+2704dup
ENST00000614895.4:c.4385+4897_4385+4961dup	ENSP00000478512.1:n.4385+4897_4385+4961dup
ENST00000616114.4:c.4367+4897_4367+4961dup	ENSP00000483745.1:n.4367+4897_4367+4961dup
ENST00000617051.4:c.5257_5321dup	ENSP00000484703.1:p.Ala1775ProfsTer?
ENST00000617271.4:c.4373+2640_4373+2704dup	ENSP00000478076.1:n.4373+2640_4373+2704dup
ENST00000618301.4:c.594-4483_594-4419dup	ENSP00000482780.1:n.594-4483_594-4419dup
ENST00000621708.4:c.4388+2640_4388+2704dup	ENSP00000484454.1:n.4388+2640_4388+2704dup
ENST00000622048.4:c.5029_5093dup	ENSP00000482329.1:p.Ala1699ProfsTer?
NM_001142763.1:c.5251_5315dup	NP_001136235.1:p.Ala1773ProfsTer?
NM_001142764.1:c.5236_5300dup	NP_001136236.1:p.Ala1768ProfsTer?
NM_001142765.1:c.5023_5087dup	NP_001136237.1:p.Ala1697ProfsTer?
NM_001142766.1:c.5221_5285dup	NP_001136238.1:p.Ala1763ProfsTer?
NM_001142767.1:c.5110_5174dup	NP_001136239.1:p.Ala1726ProfsTer?
NM_001142768.1:c.5170_5234dup	NP_001136240.1:p.Ala1746ProfsTer?
NM_001142769.1:c.4409+2640_4409+2704dup	NP_001136241.1:n.4409+2640_4409+2704dup
NM_001142770.1:c.4373+2640_4373+2704dup	NP_001136242.1:n.4373+2640_4373+2704dup
NM_001142771.1:c.4388+2640_4388+2704dup	NP_001136243.1:n.4388+2640_4388+2704dup
NM_001142772.1:c.4373+2640_4373+2704dup	NP_001136244.1:n.4373+2640_4373+2704dup
NM_001142773.1:c.5161_5225dup	NP_001136245.1:p.Ala1743ProfsTer?
NM_033056.3:c.5230_5294dup	NP_149045.3:p.Ala1766ProfsTer?
NM_001142769.2:c.4409+2640_4409+2704dup	NP_001136241.1:n.4409+2640_4409+2704dup
NM_001142770.2:c.4373+2640_4373+2704dup	NP_001136242.1:n.4373+2640_4373+2704dup
NM_001354404.1:c.5164_5228dup	NP_001341333.1:p.Ala1744ProfsTer?
NM_001354411.1:c.4388+4897_4388+4961dup	NP_001341340.1:n.4388+4897_4388+4961dup
NM_001354420.1:c.4367+4897_4367+4961dup	NP_001341349.1:n.4367+4897_4367+4961dup
NM_001354429.1:c.4368-4483_4368-4419dup	NP_001341358.1:n.4368-4483_4368-4419dup
XM_017016573.2:c.4388+2640_4388+2704dup	XP_016872062.1:n.4388+2640_4388+2704dup
XR_001747192.2:n.6243_6307dup
XR_001747193.2:n.6234_6298dup
NM_001142763.2:c.5251_5315dup	NP_001136235.1:p.Ala1773ProfsTer?
NM_001142764.2:c.5236_5300dup	NP_001136236.1:p.Ala1768ProfsTer?
NM_001142765.2:c.5023_5087dup	NP_001136237.1:p.Ala1697ProfsTer?
NM_001142766.2:c.5221_5285dup	NP_001136238.1:p.Ala1763ProfsTer?
NM_001142768.2:c.5170_5234dup	NP_001136240.1:p.Ala1746ProfsTer?
NM_001142769.3:c.4409+2640_4409+2704dup	NP_001136241.1:n.4409+2640_4409+2704dup
NM_001142770.3:c.4373+2640_4373+2704dup	NP_001136242.1:n.4373+2640_4373+2704dup
NM_001142771.2:c.4388+2640_4388+2704dup	NP_001136243.1:n.4388+2640_4388+2704dup
NM_001142772.2:c.4373+2640_4373+2704dup	NP_001136244.1:n.4373+2640_4373+2704dup
NM_001142773.2:c.5161_5225dup	NP_001136245.1:p.Ala1743ProfsTer?
NM_001354411.2:c.4388+4897_4388+4961dup	NP_001341340.1:n.4388+4897_4388+4961dup
NM_001354420.2:c.4367+4897_4367+4961dup	NP_001341349.1:n.4367+4897_4367+4961dup
NM_001354429.2:c.4368-4483_4368-4419dup	NP_001341358.1:n.4368-4483_4368-4419dup
NM_033056.4:c.5230_5294dup MANE Plus Clinical	NP_149045.3:p.Ala1766ProfsTer?
NM_001142767.2:c.5110_5174dup	NP_001136239.1:p.Ala1726ProfsTer?
NM_001354404.2:c.5164_5228dup	NP_001341333.1:p.Ala1744ProfsTer?
NM_001384140.1:c.4368-2266_4368-2202dup MANE Select	NP_001371069.1:n.4368-2266_4368-2202dup