Canonical Allele Identifier: CA912970184
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822389_53822390del , CM000672.2:g.53822389_53822390del GRCh38
NC_000010.10:g.55582149_55582150del , CM000672.1:g.55582149_55582150del GRCh37
NC_000010.9:g.55252155_55252156del NCBI36
NG_009191.2:g.983903_983904del
NG_009191.3:g.1811794_1811795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2747_4409+2748del ENSP00000482794.1:n.4409+2747_4409+2748del
ENST00000320301.11:c.5337_5338del MANE Plus Clinical ENSP00000322604.6:p.Pro1780SerfsTer?
ENST00000395445.6:c.4388+5004_4388+5005del ENSP00000378832.2:n.4388+5004_4388+5005del
ENST00000613657.5:c.4409+2747_4409+2748del ENSP00000482794.1:n.4409+2747_4409+2748del
ENST00000642496.1:c.3227-2159_3227-2158del
ENST00000644397.2:c.4368-2159_4368-2158del MANE Select ENSP00000495195.1:n.4368-2159_4368-2158del
ENST00000320301.10:c.5337_5338del ENSP00000322604.6:p.Pro1780SerfsTer?
ENST00000361849.7:c.5343_5344del ENSP00000354950.3:p.Pro1782SerfsTer?
ENST00000373956.7:c.*3292_*3293del ENSP00000363067.4:n.*3292_*3293del
ENST00000373957.7:c.5358_5359del ENSP00000363068.4:p.Pro1787SerfsTer?
ENST00000373965.6:c.4373+2747_4373+2748del ENSP00000363076.3:n.4373+2747_4373+2748del
ENST00000395430.5:c.5328_5329del ENSP00000378818.1:p.Pro1777SerfsTer?
ENST00000395432.6:c.5217_5218del ENSP00000378820.2:p.Pro1740SerfsTer?
ENST00000395433.5:c.5268_5269del ENSP00000378821.1:p.Pro1757SerfsTer?
ENST00000395438.5:c.4371+5003_4371+5004del ENSP00000378826.2:n.4371+5003_4371+5004del
ENST00000395440.5:c.1306-12843_1306-12842del ENSP00000378827.1:n.1306-12843_1306-12842del
ENST00000395442.5:c.1099-12843_1099-12842del ENSP00000378829.1:n.1099-12843_1099-12842del
ENST00000395445.5:c.4388+5004_4388+5005del ENSP00000378832.2:n.4388+5004_4388+5005del
ENST00000395446.5:c.2092-12843_2092-12842del ENSP00000378833.1:n.2092-12843_2092-12842del
ENST00000409834.5:c.3206+2747_3206+2748del ENSP00000386693.1:n.3206+2747_3206+2748del
ENST00000414367.5:c.*447+5004_*447+5005del ENSP00000412531.1:n.*447+5004_*447+5005del
ENST00000414778.5:c.4370+5004_4370+5005del ENSP00000410304.2:n.4370+5004_4370+5005del
ENST00000437009.5:c.5130_5131del ENSP00000412628.2:p.Pro1711SerfsTer?
ENST00000448885.5:c.*3298_*3299del ENSP00000412320.1:n.*3298_*3299del
ENST00000463095.2:n.2356_2357del
ENST00000495484.5:c.462-4376_462-4375del ENSP00000480780.1:n.462-4376_462-4375del
ENST00000612394.4:c.4406+5004_4406+5005del ENSP00000482921.1:n.4406+5004_4406+5005del
ENST00000613657.4:c.4409+2747_4409+2748del ENSP00000482794.1:n.4409+2747_4409+2748del
ENST00000614895.4:c.4385+5004_4385+5005del ENSP00000478512.1:n.4385+5004_4385+5005del
ENST00000616114.4:c.4367+5004_4367+5005del ENSP00000483745.1:n.4367+5004_4367+5005del
ENST00000617051.4:c.5364_5365del ENSP00000484703.1:p.Pro1789SerfsTer?
ENST00000617271.4:c.4373+2747_4373+2748del ENSP00000478076.1:n.4373+2747_4373+2748del
ENST00000618301.4:c.594-4376_594-4375del ENSP00000482780.1:n.594-4376_594-4375del
ENST00000621708.4:c.4388+2747_4388+2748del ENSP00000484454.1:n.4388+2747_4388+2748del
ENST00000622048.4:c.5136_5137del ENSP00000482329.1:p.Pro1713SerfsTer?
NM_001142763.1:c.5358_5359del NP_001136235.1:p.Pro1787SerfsTer?
NM_001142764.1:c.5343_5344del NP_001136236.1:p.Pro1782SerfsTer?
NM_001142765.1:c.5130_5131del NP_001136237.1:p.Pro1711SerfsTer?
NM_001142766.1:c.5328_5329del NP_001136238.1:p.Pro1777SerfsTer?
NM_001142767.1:c.5217_5218del NP_001136239.1:p.Pro1740SerfsTer?
NM_001142768.1:c.5277_5278del NP_001136240.1:p.Pro1760SerfsTer?
NM_001142769.1:c.4409+2747_4409+2748del NP_001136241.1:n.4409+2747_4409+2748del
NM_001142770.1:c.4373+2747_4373+2748del NP_001136242.1:n.4373+2747_4373+2748del
NM_001142771.1:c.4388+2747_4388+2748del NP_001136243.1:n.4388+2747_4388+2748del
NM_001142772.1:c.4373+2747_4373+2748del NP_001136244.1:n.4373+2747_4373+2748del
NM_001142773.1:c.5268_5269del NP_001136245.1:p.Pro1757SerfsTer?
NM_033056.3:c.5337_5338del NP_149045.3:p.Pro1780SerfsTer?
NM_001142769.2:c.4409+2747_4409+2748del NP_001136241.1:n.4409+2747_4409+2748del
NM_001142770.2:c.4373+2747_4373+2748del NP_001136242.1:n.4373+2747_4373+2748del
NM_001354404.1:c.5271_5272del NP_001341333.1:p.Pro1758SerfsTer?
NM_001354411.1:c.4388+5004_4388+5005del NP_001341340.1:n.4388+5004_4388+5005del
NM_001354420.1:c.4367+5004_4367+5005del NP_001341349.1:n.4367+5004_4367+5005del
NM_001354429.1:c.4368-4376_4368-4375del NP_001341358.1:n.4368-4376_4368-4375del
XM_017016573.2:c.4388+2747_4388+2748del XP_016872062.1:n.4388+2747_4388+2748del
XR_001747192.2:n.6350_6351del
XR_001747193.2:n.6341_6342del
NM_001142763.2:c.5358_5359del NP_001136235.1:p.Pro1787SerfsTer?
NM_001142764.2:c.5343_5344del NP_001136236.1:p.Pro1782SerfsTer?
NM_001142765.2:c.5130_5131del NP_001136237.1:p.Pro1711SerfsTer?
NM_001142766.2:c.5328_5329del NP_001136238.1:p.Pro1777SerfsTer?
NM_001142768.2:c.5277_5278del NP_001136240.1:p.Pro1760SerfsTer?
NM_001142769.3:c.4409+2747_4409+2748del NP_001136241.1:n.4409+2747_4409+2748del
NM_001142770.3:c.4373+2747_4373+2748del NP_001136242.1:n.4373+2747_4373+2748del
NM_001142771.2:c.4388+2747_4388+2748del NP_001136243.1:n.4388+2747_4388+2748del
NM_001142772.2:c.4373+2747_4373+2748del NP_001136244.1:n.4373+2747_4373+2748del
NM_001142773.2:c.5268_5269del NP_001136245.1:p.Pro1757SerfsTer?
NM_001354411.2:c.4388+5004_4388+5005del NP_001341340.1:n.4388+5004_4388+5005del
NM_001354420.2:c.4367+5004_4367+5005del NP_001341349.1:n.4367+5004_4367+5005del
NM_001354429.2:c.4368-4376_4368-4375del NP_001341358.1:n.4368-4376_4368-4375del
NM_033056.4:c.5337_5338del MANE Plus Clinical NP_149045.3:p.Pro1780SerfsTer?
NM_001142767.2:c.5217_5218del NP_001136239.1:p.Pro1740SerfsTer?
NM_001354404.2:c.5271_5272del NP_001341333.1:p.Pro1758SerfsTer?
NM_001384140.1:c.4368-2159_4368-2158del MANE Select NP_001371069.1:n.4368-2159_4368-2158del