Canonical Allele Identifier: CA912970232

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55582934_55582938del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823174_53823178del , CM000672.2:g.53823174_53823178del	GRCh38
NC_000010.10:g.55582934_55582938del , CM000672.1:g.55582934_55582938del	GRCh37
NC_000010.9:g.55252940_55252944del	NCBI36
NG_009191.2:g.983116_983120del
NG_009191.3:g.1811007_1811011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1960_4409+1964del	ENSP00000482794.1:n.4409+1960_4409+1964del
ENST00000320301.11:c.4550_4554del MANE Plus Clinical	ENSP00000322604.6:p.Ser1517Ter
ENST00000395445.6:c.4388+4217_4388+4221del	ENSP00000378832.2:n.4388+4217_4388+4221del
ENST00000613657.5:c.4409+1960_4409+1964del	ENSP00000482794.1:n.4409+1960_4409+1964del
ENST00000642496.1:c.3227-2946_3227-2942del
ENST00000644397.2:c.4368-2946_4368-2942del MANE Select	ENSP00000495195.1:n.4368-2946_4368-2942del
ENST00000320301.10:c.4550_4554del	ENSP00000322604.6:p.Ser1517Ter
ENST00000361849.7:c.4556_4560del	ENSP00000354950.3:p.Ser1519Ter
ENST00000373956.7:c.*2505_*2509del	ENSP00000363067.4:n.*2505_*2509del
ENST00000373957.7:c.4571_4575del	ENSP00000363068.4:p.Ser1524Ter
ENST00000373965.6:c.4373+1960_4373+1964del	ENSP00000363076.3:n.4373+1960_4373+1964del
ENST00000395430.5:c.4541_4545del	ENSP00000378818.1:p.Ser1514Ter
ENST00000395432.6:c.4430_4434del	ENSP00000378820.2:p.Ser1477Ter
ENST00000395433.5:c.4481_4485del	ENSP00000378821.1:p.Ser1494Ter
ENST00000395438.5:c.4371+4216_4371+4220del	ENSP00000378826.2:n.4371+4216_4371+4220del
ENST00000395440.5:c.1306-13630_1306-13626del	ENSP00000378827.1:n.1306-13630_1306-13626del
ENST00000395442.5:c.1099-13630_1099-13626del	ENSP00000378829.1:n.1099-13630_1099-13626del
ENST00000395445.5:c.4388+4217_4388+4221del	ENSP00000378832.2:n.4388+4217_4388+4221del
ENST00000395446.5:c.2092-13630_2092-13626del	ENSP00000378833.1:n.2092-13630_2092-13626del
ENST00000409834.5:c.3206+1960_3206+1964del	ENSP00000386693.1:n.3206+1960_3206+1964del
ENST00000414367.5:c.*447+4217_*447+4221del	ENSP00000412531.1:n.*447+4217_*447+4221del
ENST00000414778.5:c.4370+4217_4370+4221del	ENSP00000410304.2:n.4370+4217_4370+4221del
ENST00000437009.5:c.4343_4347del	ENSP00000412628.2:p.Ser1448Ter
ENST00000448885.5:c.*2511_*2515del	ENSP00000412320.1:n.*2511_*2515del
ENST00000463095.2:n.1569_1573del
ENST00000495484.5:c.462-5163_462-5159del	ENSP00000480780.1:n.462-5163_462-5159del
ENST00000612394.4:c.4406+4217_4406+4221del	ENSP00000482921.1:n.4406+4217_4406+4221del
ENST00000613657.4:c.4409+1960_4409+1964del	ENSP00000482794.1:n.4409+1960_4409+1964del
ENST00000614895.4:c.4385+4217_4385+4221del	ENSP00000478512.1:n.4385+4217_4385+4221del
ENST00000616114.4:c.4367+4217_4367+4221del	ENSP00000483745.1:n.4367+4217_4367+4221del
ENST00000617051.4:c.4577_4581del	ENSP00000484703.1:p.Ser1526Ter
ENST00000617271.4:c.4373+1960_4373+1964del	ENSP00000478076.1:n.4373+1960_4373+1964del
ENST00000618301.4:c.593+4217_593+4221del	ENSP00000482780.1:n.593+4217_593+4221del
ENST00000621708.4:c.4388+1960_4388+1964del	ENSP00000484454.1:n.4388+1960_4388+1964del
ENST00000622048.4:c.4349_4353del	ENSP00000482329.1:p.Ser1450Ter
NM_001142763.1:c.4571_4575del	NP_001136235.1:p.Ser1524Ter
NM_001142764.1:c.4556_4560del	NP_001136236.1:p.Ser1519Ter
NM_001142765.1:c.4343_4347del	NP_001136237.1:p.Ser1448Ter
NM_001142766.1:c.4541_4545del	NP_001136238.1:p.Ser1514Ter
NM_001142767.1:c.4430_4434del	NP_001136239.1:p.Ser1477Ter
NM_001142768.1:c.4490_4494del	NP_001136240.1:p.Ser1497Ter
NM_001142769.1:c.4409+1960_4409+1964del	NP_001136241.1:n.4409+1960_4409+1964del
NM_001142770.1:c.4373+1960_4373+1964del	NP_001136242.1:n.4373+1960_4373+1964del
NM_001142771.1:c.4388+1960_4388+1964del	NP_001136243.1:n.4388+1960_4388+1964del
NM_001142772.1:c.4373+1960_4373+1964del	NP_001136244.1:n.4373+1960_4373+1964del
NM_001142773.1:c.4481_4485del	NP_001136245.1:p.Ser1494Ter
NM_033056.3:c.4550_4554del	NP_149045.3:p.Ser1517Ter
NM_001142769.2:c.4409+1960_4409+1964del	NP_001136241.1:n.4409+1960_4409+1964del
NM_001142770.2:c.4373+1960_4373+1964del	NP_001136242.1:n.4373+1960_4373+1964del
NM_001354404.1:c.4484_4488del	NP_001341333.1:p.Ser1495Ter
NM_001354411.1:c.4388+4217_4388+4221del	NP_001341340.1:n.4388+4217_4388+4221del
NM_001354420.1:c.4367+4217_4367+4221del	NP_001341349.1:n.4367+4217_4367+4221del
NM_001354429.1:c.4367+4217_4367+4221del	NP_001341358.1:n.4367+4217_4367+4221del
XM_017016573.2:c.4388+1960_4388+1964del	XP_016872062.1:n.4388+1960_4388+1964del
XR_001747192.2:n.5563_5567del
XR_001747193.2:n.5554_5558del
NM_001142763.2:c.4571_4575del	NP_001136235.1:p.Ser1524Ter
NM_001142764.2:c.4556_4560del	NP_001136236.1:p.Ser1519Ter
NM_001142765.2:c.4343_4347del	NP_001136237.1:p.Ser1448Ter
NM_001142766.2:c.4541_4545del	NP_001136238.1:p.Ser1514Ter
NM_001142768.2:c.4490_4494del	NP_001136240.1:p.Ser1497Ter
NM_001142769.3:c.4409+1960_4409+1964del	NP_001136241.1:n.4409+1960_4409+1964del
NM_001142770.3:c.4373+1960_4373+1964del	NP_001136242.1:n.4373+1960_4373+1964del
NM_001142771.2:c.4388+1960_4388+1964del	NP_001136243.1:n.4388+1960_4388+1964del
NM_001142772.2:c.4373+1960_4373+1964del	NP_001136244.1:n.4373+1960_4373+1964del
NM_001142773.2:c.4481_4485del	NP_001136245.1:p.Ser1494Ter
NM_001354411.2:c.4388+4217_4388+4221del	NP_001341340.1:n.4388+4217_4388+4221del
NM_001354420.2:c.4367+4217_4367+4221del	NP_001341349.1:n.4367+4217_4367+4221del
NM_001354429.2:c.4367+4217_4367+4221del	NP_001341358.1:n.4367+4217_4367+4221del
NM_033056.4:c.4550_4554del MANE Plus Clinical	NP_149045.3:p.Ser1517Ter
NM_001142767.2:c.4430_4434del	NP_001136239.1:p.Ser1477Ter
NM_001354404.2:c.4484_4488del	NP_001341333.1:p.Ser1495Ter
NM_001384140.1:c.4368-2946_4368-2942del MANE Select	NP_001371069.1:n.4368-2946_4368-2942del