Canonical Allele Identifier: CA2788035354

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822388_53822391del , CM000672.2:g.53822388_53822391del	GRCh38
NC_000010.10:g.55582148_55582151del , CM000672.1:g.55582148_55582151del	GRCh37
NC_000010.9:g.55252154_55252157del	NCBI36
NG_009191.2:g.983902_983905del
NG_009191.3:g.1811793_1811796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2746_4409+2749del	ENSP00000482794.1:n.4409+2746_4409+2749del
ENST00000320301.11:c.5336_5339del MANE Plus Clinical	ENSP00000322604.6:p.Pro1779LeufsTer?
ENST00000395445.6:c.4388+5003_4388+5006del	ENSP00000378832.2:n.4388+5003_4388+5006del
ENST00000613657.5:c.4409+2746_4409+2749del	ENSP00000482794.1:n.4409+2746_4409+2749del
ENST00000642496.1:c.3227-2160_3227-2157del
ENST00000644397.2:c.4368-2160_4368-2157del MANE Select	ENSP00000495195.1:n.4368-2160_4368-2157del
ENST00000320301.10:c.5336_5339del	ENSP00000322604.6:p.Pro1779LeufsTer?
ENST00000361849.7:c.5342_5345del	ENSP00000354950.3:p.Pro1781LeufsTer?
ENST00000373956.7:c.*3291_*3294del	ENSP00000363067.4:n.*3291_*3294del
ENST00000373957.7:c.5357_5360del	ENSP00000363068.4:p.Pro1786LeufsTer?
ENST00000373965.6:c.4373+2746_4373+2749del	ENSP00000363076.3:n.4373+2746_4373+2749del
ENST00000395430.5:c.5327_5330del	ENSP00000378818.1:p.Pro1776LeufsTer?
ENST00000395432.6:c.5216_5219del	ENSP00000378820.2:p.Pro1739LeufsTer?
ENST00000395433.5:c.5267_5270del	ENSP00000378821.1:p.Pro1756LeufsTer?
ENST00000395438.5:c.4371+5002_4371+5005del	ENSP00000378826.2:n.4371+5002_4371+5005del
ENST00000395440.5:c.1306-12844_1306-12841del	ENSP00000378827.1:n.1306-12844_1306-12841del
ENST00000395442.5:c.1099-12844_1099-12841del	ENSP00000378829.1:n.1099-12844_1099-12841del
ENST00000395445.5:c.4388+5003_4388+5006del	ENSP00000378832.2:n.4388+5003_4388+5006del
ENST00000395446.5:c.2092-12844_2092-12841del	ENSP00000378833.1:n.2092-12844_2092-12841del
ENST00000409834.5:c.3206+2746_3206+2749del	ENSP00000386693.1:n.3206+2746_3206+2749del
ENST00000414367.5:c.*447+5003_*447+5006del	ENSP00000412531.1:n.*447+5003_*447+5006del
ENST00000414778.5:c.4370+5003_4370+5006del	ENSP00000410304.2:n.4370+5003_4370+5006del
ENST00000437009.5:c.5129_5132del	ENSP00000412628.2:p.Pro1710LeufsTer?
ENST00000448885.5:c.*3297_*3300del	ENSP00000412320.1:n.*3297_*3300del
ENST00000463095.2:n.2355_2358del
ENST00000495484.5:c.462-4377_462-4374del	ENSP00000480780.1:n.462-4377_462-4374del
ENST00000612394.4:c.4406+5003_4406+5006del	ENSP00000482921.1:n.4406+5003_4406+5006del
ENST00000613657.4:c.4409+2746_4409+2749del	ENSP00000482794.1:n.4409+2746_4409+2749del
ENST00000614895.4:c.4385+5003_4385+5006del	ENSP00000478512.1:n.4385+5003_4385+5006del
ENST00000616114.4:c.4367+5003_4367+5006del	ENSP00000483745.1:n.4367+5003_4367+5006del
ENST00000617051.4:c.5363_5366del	ENSP00000484703.1:p.Pro1788LeufsTer?
ENST00000617271.4:c.4373+2746_4373+2749del	ENSP00000478076.1:n.4373+2746_4373+2749del
ENST00000618301.4:c.594-4377_594-4374del	ENSP00000482780.1:n.594-4377_594-4374del
ENST00000621708.4:c.4388+2746_4388+2749del	ENSP00000484454.1:n.4388+2746_4388+2749del
ENST00000622048.4:c.5135_5138del	ENSP00000482329.1:p.Pro1712LeufsTer?
NM_001142763.1:c.5357_5360del	NP_001136235.1:p.Pro1786LeufsTer?
NM_001142764.1:c.5342_5345del	NP_001136236.1:p.Pro1781LeufsTer?
NM_001142765.1:c.5129_5132del	NP_001136237.1:p.Pro1710LeufsTer?
NM_001142766.1:c.5327_5330del	NP_001136238.1:p.Pro1776LeufsTer?
NM_001142767.1:c.5216_5219del	NP_001136239.1:p.Pro1739LeufsTer?
NM_001142768.1:c.5276_5279del	NP_001136240.1:p.Pro1759LeufsTer?
NM_001142769.1:c.4409+2746_4409+2749del	NP_001136241.1:n.4409+2746_4409+2749del
NM_001142770.1:c.4373+2746_4373+2749del	NP_001136242.1:n.4373+2746_4373+2749del
NM_001142771.1:c.4388+2746_4388+2749del	NP_001136243.1:n.4388+2746_4388+2749del
NM_001142772.1:c.4373+2746_4373+2749del	NP_001136244.1:n.4373+2746_4373+2749del
NM_001142773.1:c.5267_5270del	NP_001136245.1:p.Pro1756LeufsTer?
NM_033056.3:c.5336_5339del	NP_149045.3:p.Pro1779LeufsTer?
NM_001142769.2:c.4409+2746_4409+2749del	NP_001136241.1:n.4409+2746_4409+2749del
NM_001142770.2:c.4373+2746_4373+2749del	NP_001136242.1:n.4373+2746_4373+2749del
NM_001354404.1:c.5270_5273del	NP_001341333.1:p.Pro1757LeufsTer?
NM_001354411.1:c.4388+5003_4388+5006del	NP_001341340.1:n.4388+5003_4388+5006del
NM_001354420.1:c.4367+5003_4367+5006del	NP_001341349.1:n.4367+5003_4367+5006del
NM_001354429.1:c.4368-4377_4368-4374del	NP_001341358.1:n.4368-4377_4368-4374del
XM_017016573.2:c.4388+2746_4388+2749del	XP_016872062.1:n.4388+2746_4388+2749del
XR_001747192.2:n.6349_6352del
XR_001747193.2:n.6340_6343del
NM_001142763.2:c.5357_5360del	NP_001136235.1:p.Pro1786LeufsTer?
NM_001142764.2:c.5342_5345del	NP_001136236.1:p.Pro1781LeufsTer?
NM_001142765.2:c.5129_5132del	NP_001136237.1:p.Pro1710LeufsTer?
NM_001142766.2:c.5327_5330del	NP_001136238.1:p.Pro1776LeufsTer?
NM_001142768.2:c.5276_5279del	NP_001136240.1:p.Pro1759LeufsTer?
NM_001142769.3:c.4409+2746_4409+2749del	NP_001136241.1:n.4409+2746_4409+2749del
NM_001142770.3:c.4373+2746_4373+2749del	NP_001136242.1:n.4373+2746_4373+2749del
NM_001142771.2:c.4388+2746_4388+2749del	NP_001136243.1:n.4388+2746_4388+2749del
NM_001142772.2:c.4373+2746_4373+2749del	NP_001136244.1:n.4373+2746_4373+2749del
NM_001142773.2:c.5267_5270del	NP_001136245.1:p.Pro1756LeufsTer?
NM_001354411.2:c.4388+5003_4388+5006del	NP_001341340.1:n.4388+5003_4388+5006del
NM_001354420.2:c.4367+5003_4367+5006del	NP_001341349.1:n.4367+5003_4367+5006del
NM_001354429.2:c.4368-4377_4368-4374del	NP_001341358.1:n.4368-4377_4368-4374del
NM_033056.4:c.5336_5339del MANE Plus Clinical	NP_149045.3:p.Pro1779LeufsTer?
NM_001142767.2:c.5216_5219del	NP_001136239.1:p.Pro1739LeufsTer?
NM_001354404.2:c.5270_5273del	NP_001341333.1:p.Pro1757LeufsTer?
NM_001384140.1:c.4368-2160_4368-2157del MANE Select	NP_001371069.1:n.4368-2160_4368-2157del