Canonical Allele Identifier: CA2788035347

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822363_53822366del , CM000672.2:g.53822363_53822366del	GRCh38
NC_000010.10:g.55582123_55582126del , CM000672.1:g.55582123_55582126del	GRCh37
NC_000010.9:g.55252129_55252132del	NCBI36
NG_009191.2:g.983926_983929del
NG_009191.3:g.1811817_1811820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2770_4409+2773del	ENSP00000482794.1:n.4409+2770_4409+2773del
ENST00000320301.11:c.5360_5363del MANE Plus Clinical	ENSP00000322604.6:p.Pro1787LeufsTer?
ENST00000395445.6:c.4388+5027_4388+5030del	ENSP00000378832.2:n.4388+5027_4388+5030del
ENST00000613657.5:c.4409+2770_4409+2773del	ENSP00000482794.1:n.4409+2770_4409+2773del
ENST00000642496.1:c.3227-2136_3227-2133del
ENST00000644397.2:c.4368-2136_4368-2133del MANE Select	ENSP00000495195.1:n.4368-2136_4368-2133del
ENST00000320301.10:c.5360_5363del	ENSP00000322604.6:p.Pro1787LeufsTer?
ENST00000361849.7:c.5366_5369del	ENSP00000354950.3:p.Pro1789LeufsTer?
ENST00000373956.7:c.*3315_*3318del	ENSP00000363067.4:n.*3315_*3318del
ENST00000373957.7:c.5381_5384del	ENSP00000363068.4:p.Pro1794LeufsTer?
ENST00000373965.6:c.4373+2770_4373+2773del	ENSP00000363076.3:n.4373+2770_4373+2773del
ENST00000395430.5:c.5351_5354del	ENSP00000378818.1:p.Pro1784LeufsTer?
ENST00000395432.6:c.5240_5243del	ENSP00000378820.2:p.Pro1747LeufsTer?
ENST00000395433.5:c.5291_5294del	ENSP00000378821.1:p.Pro1764LeufsTer?
ENST00000395438.5:c.4371+5026_4371+5029del	ENSP00000378826.2:n.4371+5026_4371+5029del
ENST00000395440.5:c.1306-12820_1306-12817del	ENSP00000378827.1:n.1306-12820_1306-12817del
ENST00000395442.5:c.1099-12820_1099-12817del	ENSP00000378829.1:n.1099-12820_1099-12817del
ENST00000395445.5:c.4388+5027_4388+5030del	ENSP00000378832.2:n.4388+5027_4388+5030del
ENST00000395446.5:c.2092-12820_2092-12817del	ENSP00000378833.1:n.2092-12820_2092-12817del
ENST00000409834.5:c.3206+2770_3206+2773del	ENSP00000386693.1:n.3206+2770_3206+2773del
ENST00000414367.5:c.*447+5027_*447+5030del	ENSP00000412531.1:n.*447+5027_*447+5030del
ENST00000414778.5:c.4370+5027_4370+5030del	ENSP00000410304.2:n.4370+5027_4370+5030del
ENST00000437009.5:c.5153_5156del	ENSP00000412628.2:p.Pro1718LeufsTer?
ENST00000448885.5:c.*3321_*3324del	ENSP00000412320.1:n.*3321_*3324del
ENST00000463095.2:n.2379_2382del
ENST00000495484.5:c.462-4353_462-4350del	ENSP00000480780.1:n.462-4353_462-4350del
ENST00000612394.4:c.4406+5027_4406+5030del	ENSP00000482921.1:n.4406+5027_4406+5030del
ENST00000613657.4:c.4409+2770_4409+2773del	ENSP00000482794.1:n.4409+2770_4409+2773del
ENST00000614895.4:c.4385+5027_4385+5030del	ENSP00000478512.1:n.4385+5027_4385+5030del
ENST00000616114.4:c.4367+5027_4367+5030del	ENSP00000483745.1:n.4367+5027_4367+5030del
ENST00000617051.4:c.5387_5390del	ENSP00000484703.1:p.Pro1796LeufsTer?
ENST00000617271.4:c.4373+2770_4373+2773del	ENSP00000478076.1:n.4373+2770_4373+2773del
ENST00000618301.4:c.594-4353_594-4350del	ENSP00000482780.1:n.594-4353_594-4350del
ENST00000621708.4:c.4388+2770_4388+2773del	ENSP00000484454.1:n.4388+2770_4388+2773del
ENST00000622048.4:c.5159_5162del	ENSP00000482329.1:p.Pro1720LeufsTer?
NM_001142763.1:c.5381_5384del	NP_001136235.1:p.Pro1794LeufsTer?
NM_001142764.1:c.5366_5369del	NP_001136236.1:p.Pro1789LeufsTer?
NM_001142765.1:c.5153_5156del	NP_001136237.1:p.Pro1718LeufsTer?
NM_001142766.1:c.5351_5354del	NP_001136238.1:p.Pro1784LeufsTer?
NM_001142767.1:c.5240_5243del	NP_001136239.1:p.Pro1747LeufsTer?
NM_001142768.1:c.5300_5303del	NP_001136240.1:p.Pro1767LeufsTer?
NM_001142769.1:c.4409+2770_4409+2773del	NP_001136241.1:n.4409+2770_4409+2773del
NM_001142770.1:c.4373+2770_4373+2773del	NP_001136242.1:n.4373+2770_4373+2773del
NM_001142771.1:c.4388+2770_4388+2773del	NP_001136243.1:n.4388+2770_4388+2773del
NM_001142772.1:c.4373+2770_4373+2773del	NP_001136244.1:n.4373+2770_4373+2773del
NM_001142773.1:c.5291_5294del	NP_001136245.1:p.Pro1764LeufsTer?
NM_033056.3:c.5360_5363del	NP_149045.3:p.Pro1787LeufsTer?
NM_001142769.2:c.4409+2770_4409+2773del	NP_001136241.1:n.4409+2770_4409+2773del
NM_001142770.2:c.4373+2770_4373+2773del	NP_001136242.1:n.4373+2770_4373+2773del
NM_001354404.1:c.5294_5297del	NP_001341333.1:p.Pro1765LeufsTer?
NM_001354411.1:c.4388+5027_4388+5030del	NP_001341340.1:n.4388+5027_4388+5030del
NM_001354420.1:c.4367+5027_4367+5030del	NP_001341349.1:n.4367+5027_4367+5030del
NM_001354429.1:c.4368-4353_4368-4350del	NP_001341358.1:n.4368-4353_4368-4350del
XM_017016573.2:c.4388+2770_4388+2773del	XP_016872062.1:n.4388+2770_4388+2773del
XR_001747192.2:n.6373_6376del
XR_001747193.2:n.6364_6367del
NM_001142763.2:c.5381_5384del	NP_001136235.1:p.Pro1794LeufsTer?
NM_001142764.2:c.5366_5369del	NP_001136236.1:p.Pro1789LeufsTer?
NM_001142765.2:c.5153_5156del	NP_001136237.1:p.Pro1718LeufsTer?
NM_001142766.2:c.5351_5354del	NP_001136238.1:p.Pro1784LeufsTer?
NM_001142768.2:c.5300_5303del	NP_001136240.1:p.Pro1767LeufsTer?
NM_001142769.3:c.4409+2770_4409+2773del	NP_001136241.1:n.4409+2770_4409+2773del
NM_001142770.3:c.4373+2770_4373+2773del	NP_001136242.1:n.4373+2770_4373+2773del
NM_001142771.2:c.4388+2770_4388+2773del	NP_001136243.1:n.4388+2770_4388+2773del
NM_001142772.2:c.4373+2770_4373+2773del	NP_001136244.1:n.4373+2770_4373+2773del
NM_001142773.2:c.5291_5294del	NP_001136245.1:p.Pro1764LeufsTer?
NM_001354411.2:c.4388+5027_4388+5030del	NP_001341340.1:n.4388+5027_4388+5030del
NM_001354420.2:c.4367+5027_4367+5030del	NP_001341349.1:n.4367+5027_4367+5030del
NM_001354429.2:c.4368-4353_4368-4350del	NP_001341358.1:n.4368-4353_4368-4350del
NM_033056.4:c.5360_5363del MANE Plus Clinical	NP_149045.3:p.Pro1787LeufsTer?
NM_001142767.2:c.5240_5243del	NP_001136239.1:p.Pro1747LeufsTer?
NM_001354404.2:c.5294_5297del	NP_001341333.1:p.Pro1765LeufsTer?
NM_001384140.1:c.4368-2136_4368-2133del MANE Select	NP_001371069.1:n.4368-2136_4368-2133del