Canonical Allele Identifier: CA2788035303

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822309_53822313del , CM000672.2:g.53822309_53822313del	GRCh38
NC_000010.10:g.55582069_55582073del , CM000672.1:g.55582069_55582073del	GRCh37
NC_000010.9:g.55252075_55252079del	NCBI36
NG_009191.2:g.983979_983983del
NG_009191.3:g.1811870_1811874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2823_4409+2827del	ENSP00000482794.1:n.4409+2823_4409+2827del
ENST00000320301.11:c.5413_5417del MANE Plus Clinical	ENSP00000322604.6:p.Pro1805AsnfsTer?
ENST00000395445.6:c.4388+5080_4388+5084del	ENSP00000378832.2:n.4388+5080_4388+5084del
ENST00000613657.5:c.4409+2823_4409+2827del	ENSP00000482794.1:n.4409+2823_4409+2827del
ENST00000642496.1:c.3227-2083_3227-2079del
ENST00000644397.2:c.4368-2083_4368-2079del MANE Select	ENSP00000495195.1:n.4368-2083_4368-2079del
ENST00000320301.10:c.5413_5417del	ENSP00000322604.6:p.Pro1805AsnfsTer?
ENST00000361849.7:c.5419_5423del	ENSP00000354950.3:p.Pro1807AsnfsTer?
ENST00000373956.7:c.*3368_*3372del	ENSP00000363067.4:n.*3368_*3372del
ENST00000373957.7:c.5434_5438del	ENSP00000363068.4:p.Pro1812AsnfsTer?
ENST00000373965.6:c.4373+2823_4373+2827del	ENSP00000363076.3:n.4373+2823_4373+2827del
ENST00000395430.5:c.5404_5408del	ENSP00000378818.1:p.Pro1802AsnfsTer?
ENST00000395432.6:c.5293_5297del	ENSP00000378820.2:p.Pro1765AsnfsTer?
ENST00000395433.5:c.5344_5348del	ENSP00000378821.1:p.Pro1782AsnfsTer?
ENST00000395438.5:c.4371+5079_4371+5083del	ENSP00000378826.2:n.4371+5079_4371+5083del
ENST00000395440.5:c.1306-12767_1306-12763del	ENSP00000378827.1:n.1306-12767_1306-12763del
ENST00000395442.5:c.1099-12767_1099-12763del	ENSP00000378829.1:n.1099-12767_1099-12763del
ENST00000395445.5:c.4388+5080_4388+5084del	ENSP00000378832.2:n.4388+5080_4388+5084del
ENST00000395446.5:c.2092-12767_2092-12763del	ENSP00000378833.1:n.2092-12767_2092-12763del
ENST00000409834.5:c.3206+2823_3206+2827del	ENSP00000386693.1:n.3206+2823_3206+2827del
ENST00000414367.5:c.*447+5080_*447+5084del	ENSP00000412531.1:n.*447+5080_*447+5084del
ENST00000414778.5:c.4370+5080_4370+5084del	ENSP00000410304.2:n.4370+5080_4370+5084del
ENST00000437009.5:c.5206_5210del	ENSP00000412628.2:p.Pro1736AsnfsTer?
ENST00000448885.5:c.*3374_*3378del	ENSP00000412320.1:n.*3374_*3378del
ENST00000463095.2:n.2432_2436del
ENST00000495484.5:c.462-4300_462-4296del	ENSP00000480780.1:n.462-4300_462-4296del
ENST00000612394.4:c.4406+5080_4406+5084del	ENSP00000482921.1:n.4406+5080_4406+5084del
ENST00000613657.4:c.4409+2823_4409+2827del	ENSP00000482794.1:n.4409+2823_4409+2827del
ENST00000614895.4:c.4385+5080_4385+5084del	ENSP00000478512.1:n.4385+5080_4385+5084del
ENST00000616114.4:c.4367+5080_4367+5084del	ENSP00000483745.1:n.4367+5080_4367+5084del
ENST00000617051.4:c.5440_5444del	ENSP00000484703.1:p.Pro1814AsnfsTer?
ENST00000617271.4:c.4373+2823_4373+2827del	ENSP00000478076.1:n.4373+2823_4373+2827del
ENST00000618301.4:c.594-4300_594-4296del	ENSP00000482780.1:n.594-4300_594-4296del
ENST00000621708.4:c.4388+2823_4388+2827del	ENSP00000484454.1:n.4388+2823_4388+2827del
ENST00000622048.4:c.5212_5216del	ENSP00000482329.1:p.Pro1738AsnfsTer?
NM_001142763.1:c.5434_5438del	NP_001136235.1:p.Pro1812AsnfsTer?
NM_001142764.1:c.5419_5423del	NP_001136236.1:p.Pro1807AsnfsTer?
NM_001142765.1:c.5206_5210del	NP_001136237.1:p.Pro1736AsnfsTer?
NM_001142766.1:c.5404_5408del	NP_001136238.1:p.Pro1802AsnfsTer?
NM_001142767.1:c.5293_5297del	NP_001136239.1:p.Pro1765AsnfsTer?
NM_001142768.1:c.5353_5357del	NP_001136240.1:p.Pro1785AsnfsTer?
NM_001142769.1:c.4409+2823_4409+2827del	NP_001136241.1:n.4409+2823_4409+2827del
NM_001142770.1:c.4373+2823_4373+2827del	NP_001136242.1:n.4373+2823_4373+2827del
NM_001142771.1:c.4388+2823_4388+2827del	NP_001136243.1:n.4388+2823_4388+2827del
NM_001142772.1:c.4373+2823_4373+2827del	NP_001136244.1:n.4373+2823_4373+2827del
NM_001142773.1:c.5344_5348del	NP_001136245.1:p.Pro1782AsnfsTer?
NM_033056.3:c.5413_5417del	NP_149045.3:p.Pro1805AsnfsTer?
NM_001142769.2:c.4409+2823_4409+2827del	NP_001136241.1:n.4409+2823_4409+2827del
NM_001142770.2:c.4373+2823_4373+2827del	NP_001136242.1:n.4373+2823_4373+2827del
NM_001354404.1:c.5347_5351del	NP_001341333.1:p.Pro1783AsnfsTer?
NM_001354411.1:c.4388+5080_4388+5084del	NP_001341340.1:n.4388+5080_4388+5084del
NM_001354420.1:c.4367+5080_4367+5084del	NP_001341349.1:n.4367+5080_4367+5084del
NM_001354429.1:c.4368-4300_4368-4296del	NP_001341358.1:n.4368-4300_4368-4296del
XM_017016573.2:c.4388+2823_4388+2827del	XP_016872062.1:n.4388+2823_4388+2827del
XR_001747192.2:n.6426_6430del
XR_001747193.2:n.6417_6421del
NM_001142763.2:c.5434_5438del	NP_001136235.1:p.Pro1812AsnfsTer?
NM_001142764.2:c.5419_5423del	NP_001136236.1:p.Pro1807AsnfsTer?
NM_001142765.2:c.5206_5210del	NP_001136237.1:p.Pro1736AsnfsTer?
NM_001142766.2:c.5404_5408del	NP_001136238.1:p.Pro1802AsnfsTer?
NM_001142768.2:c.5353_5357del	NP_001136240.1:p.Pro1785AsnfsTer?
NM_001142769.3:c.4409+2823_4409+2827del	NP_001136241.1:n.4409+2823_4409+2827del
NM_001142770.3:c.4373+2823_4373+2827del	NP_001136242.1:n.4373+2823_4373+2827del
NM_001142771.2:c.4388+2823_4388+2827del	NP_001136243.1:n.4388+2823_4388+2827del
NM_001142772.2:c.4373+2823_4373+2827del	NP_001136244.1:n.4373+2823_4373+2827del
NM_001142773.2:c.5344_5348del	NP_001136245.1:p.Pro1782AsnfsTer?
NM_001354411.2:c.4388+5080_4388+5084del	NP_001341340.1:n.4388+5080_4388+5084del
NM_001354420.2:c.4367+5080_4367+5084del	NP_001341349.1:n.4367+5080_4367+5084del
NM_001354429.2:c.4368-4300_4368-4296del	NP_001341358.1:n.4368-4300_4368-4296del
NM_033056.4:c.5413_5417del MANE Plus Clinical	NP_149045.3:p.Pro1805AsnfsTer?
NM_001142767.2:c.5293_5297del	NP_001136239.1:p.Pro1765AsnfsTer?
NM_001354404.2:c.5347_5351del	NP_001341333.1:p.Pro1783AsnfsTer?
NM_001384140.1:c.4368-2083_4368-2079del MANE Select	NP_001371069.1:n.4368-2083_4368-2079del