Canonical Allele Identifier: CA928498524

Gene: PCDH15

Linked Data

• dbSNP Id: rs1657357578
• gnomAD v3: 10-53823808-G-GAGCC
• gnomAD v4: 10-53823808-G-GAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823810_53823813dup , CM000672.2:g.53823810_53823813dup	GRCh38
NC_000010.10:g.55583570_55583573dup , CM000672.1:g.55583570_55583573dup	GRCh37
NC_000010.9:g.55253576_55253579dup	NCBI36
NG_009191.2:g.982480_982483dup
NG_009191.3:g.1810371_1810374dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1324_4409+1327dup	ENSP00000482794.1:n.4409+1324_4409+1327dup
ENST00000320301.11:c.4368-454_4368-451dup MANE Plus Clinical	ENSP00000322604.6:n.4368-454_4368-451dup
ENST00000395445.6:c.4388+3581_4388+3584dup	ENSP00000378832.2:n.4388+3581_4388+3584dup
ENST00000613657.5:c.4409+1324_4409+1327dup	ENSP00000482794.1:n.4409+1324_4409+1327dup
ENST00000642496.1:c.3227-3582_3227-3579dup
ENST00000644397.2:c.4368-3582_4368-3579dup MANE Select	ENSP00000495195.1:n.4368-3582_4368-3579dup
ENST00000320301.10:c.4368-454_4368-451dup	ENSP00000322604.6:n.4368-454_4368-451dup
ENST00000361849.7:c.4374-454_4374-451dup	ENSP00000354950.3:n.4374-454_4374-451dup
ENST00000373956.7:c.*2323-454_*2323-451dup	ENSP00000363067.4:n.*2323-454_*2323-451dup
ENST00000373957.7:c.4389-454_4389-451dup	ENSP00000363068.4:n.4389-454_4389-451dup
ENST00000373965.6:c.4373+1324_4373+1327dup	ENSP00000363076.3:n.4373+1324_4373+1327dup
ENST00000395430.5:c.4359-454_4359-451dup	ENSP00000378818.1:n.4359-454_4359-451dup
ENST00000395432.6:c.4248-454_4248-451dup	ENSP00000378820.2:n.4248-454_4248-451dup
ENST00000395433.5:c.4299-454_4299-451dup	ENSP00000378821.1:n.4299-454_4299-451dup
ENST00000395438.5:c.4371+3580_4371+3583dup	ENSP00000378826.2:n.4371+3580_4371+3583dup
ENST00000395440.5:c.1306-14266_1306-14263dup	ENSP00000378827.1:n.1306-14266_1306-14263dup
ENST00000395442.5:c.1099-14266_1099-14263dup	ENSP00000378829.1:n.1099-14266_1099-14263dup
ENST00000395445.5:c.4388+3581_4388+3584dup	ENSP00000378832.2:n.4388+3581_4388+3584dup
ENST00000395446.5:c.2092-14266_2092-14263dup	ENSP00000378833.1:n.2092-14266_2092-14263dup
ENST00000409834.5:c.3206+1324_3206+1327dup	ENSP00000386693.1:n.3206+1324_3206+1327dup
ENST00000414367.5:c.*447+3581_*447+3584dup	ENSP00000412531.1:n.*447+3581_*447+3584dup
ENST00000414778.5:c.4370+3581_4370+3584dup	ENSP00000410304.2:n.4370+3581_4370+3584dup
ENST00000437009.5:c.4161-454_4161-451dup	ENSP00000412628.2:n.4161-454_4161-451dup
ENST00000448885.5:c.*2329-454_*2329-451dup	ENSP00000412320.1:n.*2329-454_*2329-451dup
ENST00000463095.2:n.1387-454_1387-451dup
ENST00000495484.5:c.462-5799_462-5796dup	ENSP00000480780.1:n.462-5799_462-5796dup
ENST00000612394.4:c.4406+3581_4406+3584dup	ENSP00000482921.1:n.4406+3581_4406+3584dup
ENST00000613657.4:c.4409+1324_4409+1327dup	ENSP00000482794.1:n.4409+1324_4409+1327dup
ENST00000614895.4:c.4385+3581_4385+3584dup	ENSP00000478512.1:n.4385+3581_4385+3584dup
ENST00000616114.4:c.4367+3581_4367+3584dup	ENSP00000483745.1:n.4367+3581_4367+3584dup
ENST00000617051.4:c.4386-445_4386-442dup	ENSP00000484703.1:n.4386-445_4386-442dup
ENST00000617271.4:c.4373+1324_4373+1327dup	ENSP00000478076.1:n.4373+1324_4373+1327dup
ENST00000618301.4:c.593+3581_593+3584dup	ENSP00000482780.1:n.593+3581_593+3584dup
ENST00000621708.4:c.4388+1324_4388+1327dup	ENSP00000484454.1:n.4388+1324_4388+1327dup
ENST00000622048.4:c.4158-445_4158-442dup	ENSP00000482329.1:n.4158-445_4158-442dup
NM_001142763.1:c.4389-454_4389-451dup	NP_001136235.1:n.4389-454_4389-451dup
NM_001142764.1:c.4374-454_4374-451dup	NP_001136236.1:n.4374-454_4374-451dup
NM_001142765.1:c.4161-454_4161-451dup	NP_001136237.1:n.4161-454_4161-451dup
NM_001142766.1:c.4359-454_4359-451dup	NP_001136238.1:n.4359-454_4359-451dup
NM_001142767.1:c.4248-454_4248-451dup	NP_001136239.1:n.4248-454_4248-451dup
NM_001142768.1:c.4308-454_4308-451dup	NP_001136240.1:n.4308-454_4308-451dup
NM_001142769.1:c.4409+1324_4409+1327dup	NP_001136241.1:n.4409+1324_4409+1327dup
NM_001142770.1:c.4373+1324_4373+1327dup	NP_001136242.1:n.4373+1324_4373+1327dup
NM_001142771.1:c.4388+1324_4388+1327dup	NP_001136243.1:n.4388+1324_4388+1327dup
NM_001142772.1:c.4373+1324_4373+1327dup	NP_001136244.1:n.4373+1324_4373+1327dup
NM_001142773.1:c.4299-454_4299-451dup	NP_001136245.1:n.4299-454_4299-451dup
NM_033056.3:c.4368-454_4368-451dup	NP_149045.3:n.4368-454_4368-451dup
NM_001142769.2:c.4409+1324_4409+1327dup	NP_001136241.1:n.4409+1324_4409+1327dup
NM_001142770.2:c.4373+1324_4373+1327dup	NP_001136242.1:n.4373+1324_4373+1327dup
NM_001354404.1:c.4302-454_4302-451dup	NP_001341333.1:n.4302-454_4302-451dup
NM_001354411.1:c.4388+3581_4388+3584dup	NP_001341340.1:n.4388+3581_4388+3584dup
NM_001354420.1:c.4367+3581_4367+3584dup	NP_001341349.1:n.4367+3581_4367+3584dup
NM_001354429.1:c.4367+3581_4367+3584dup	NP_001341358.1:n.4367+3581_4367+3584dup
XM_017016573.2:c.4388+1324_4388+1327dup	XP_016872062.1:n.4388+1324_4388+1327dup
XR_001747192.2:n.5381-454_5381-451dup
XR_001747193.2:n.5372-454_5372-451dup
NM_001142763.2:c.4389-454_4389-451dup	NP_001136235.1:n.4389-454_4389-451dup
NM_001142764.2:c.4374-454_4374-451dup	NP_001136236.1:n.4374-454_4374-451dup
NM_001142765.2:c.4161-454_4161-451dup	NP_001136237.1:n.4161-454_4161-451dup
NM_001142766.2:c.4359-454_4359-451dup	NP_001136238.1:n.4359-454_4359-451dup
NM_001142768.2:c.4308-454_4308-451dup	NP_001136240.1:n.4308-454_4308-451dup
NM_001142769.3:c.4409+1324_4409+1327dup	NP_001136241.1:n.4409+1324_4409+1327dup
NM_001142770.3:c.4373+1324_4373+1327dup	NP_001136242.1:n.4373+1324_4373+1327dup
NM_001142771.2:c.4388+1324_4388+1327dup	NP_001136243.1:n.4388+1324_4388+1327dup
NM_001142772.2:c.4373+1324_4373+1327dup	NP_001136244.1:n.4373+1324_4373+1327dup
NM_001142773.2:c.4299-454_4299-451dup	NP_001136245.1:n.4299-454_4299-451dup
NM_001354411.2:c.4388+3581_4388+3584dup	NP_001341340.1:n.4388+3581_4388+3584dup
NM_001354420.2:c.4367+3581_4367+3584dup	NP_001341349.1:n.4367+3581_4367+3584dup
NM_001354429.2:c.4367+3581_4367+3584dup	NP_001341358.1:n.4367+3581_4367+3584dup
NM_033056.4:c.4368-454_4368-451dup MANE Plus Clinical	NP_149045.3:n.4368-454_4368-451dup
NM_001142767.2:c.4248-454_4248-451dup	NP_001136239.1:n.4248-454_4248-451dup
NM_001354404.2:c.4302-454_4302-451dup	NP_001341333.1:n.4302-454_4302-451dup
NM_001384140.1:c.4368-3582_4368-3579dup MANE Select	NP_001371069.1:n.4368-3582_4368-3579dup