Canonical Allele Identifier: CA2609212077

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53822370-TAGAAGGAGGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822371_53822382del , CM000672.2:g.53822371_53822382del	GRCh38
NC_000010.10:g.55582131_55582142del , CM000672.1:g.55582131_55582142del	GRCh37
NC_000010.9:g.55252137_55252148del	NCBI36
NG_009191.2:g.983910_983921del
NG_009191.3:g.1811801_1811812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2754_4409+2765del	ENSP00000482794.1:n.4409+2754_4409+2765del
ENST00000320301.11:c.5344_5355del MANE Plus Clinical	ENSP00000322604.6:p.Ser1782_Ser1785del
ENST00000395445.6:c.4388+5011_4388+5022del	ENSP00000378832.2:n.4388+5011_4388+5022del
ENST00000613657.5:c.4409+2754_4409+2765del	ENSP00000482794.1:n.4409+2754_4409+2765del
ENST00000642496.1:c.3227-2152_3227-2141del
ENST00000644397.2:c.4368-2152_4368-2141del MANE Select	ENSP00000495195.1:n.4368-2152_4368-2141del
ENST00000320301.10:c.5344_5355del	ENSP00000322604.6:p.Ser1782_Ser1785del
ENST00000361849.7:c.5350_5361del	ENSP00000354950.3:p.Ser1784_Ser1787del
ENST00000373956.7:c.*3299_*3310del	ENSP00000363067.4:n.*3299_*3310del
ENST00000373957.7:c.5365_5376del	ENSP00000363068.4:p.Ser1789_Ser1792del
ENST00000373965.6:c.4373+2754_4373+2765del	ENSP00000363076.3:n.4373+2754_4373+2765del
ENST00000395430.5:c.5335_5346del	ENSP00000378818.1:p.Ser1779_Ser1782del
ENST00000395432.6:c.5224_5235del	ENSP00000378820.2:p.Ser1742_Ser1745del
ENST00000395433.5:c.5275_5286del	ENSP00000378821.1:p.Ser1759_Ser1762del
ENST00000395438.5:c.4371+5010_4371+5021del	ENSP00000378826.2:n.4371+5010_4371+5021del
ENST00000395440.5:c.1306-12836_1306-12825del	ENSP00000378827.1:n.1306-12836_1306-12825del
ENST00000395442.5:c.1099-12836_1099-12825del	ENSP00000378829.1:n.1099-12836_1099-12825del
ENST00000395445.5:c.4388+5011_4388+5022del	ENSP00000378832.2:n.4388+5011_4388+5022del
ENST00000395446.5:c.2092-12836_2092-12825del	ENSP00000378833.1:n.2092-12836_2092-12825del
ENST00000409834.5:c.3206+2754_3206+2765del	ENSP00000386693.1:n.3206+2754_3206+2765del
ENST00000414367.5:c.*447+5011_*447+5022del	ENSP00000412531.1:n.*447+5011_*447+5022del
ENST00000414778.5:c.4370+5011_4370+5022del	ENSP00000410304.2:n.4370+5011_4370+5022del
ENST00000437009.5:c.5137_5148del	ENSP00000412628.2:p.Ser1713_Ser1716del
ENST00000448885.5:c.*3305_*3316del	ENSP00000412320.1:n.*3305_*3316del
ENST00000463095.2:n.2363_2374del
ENST00000495484.5:c.462-4369_462-4358del	ENSP00000480780.1:n.462-4369_462-4358del
ENST00000612394.4:c.4406+5011_4406+5022del	ENSP00000482921.1:n.4406+5011_4406+5022del
ENST00000613657.4:c.4409+2754_4409+2765del	ENSP00000482794.1:n.4409+2754_4409+2765del
ENST00000614895.4:c.4385+5011_4385+5022del	ENSP00000478512.1:n.4385+5011_4385+5022del
ENST00000616114.4:c.4367+5011_4367+5022del	ENSP00000483745.1:n.4367+5011_4367+5022del
ENST00000617051.4:c.5371_5382del	ENSP00000484703.1:p.Ser1791_Ser1794del
ENST00000617271.4:c.4373+2754_4373+2765del	ENSP00000478076.1:n.4373+2754_4373+2765del
ENST00000618301.4:c.594-4369_594-4358del	ENSP00000482780.1:n.594-4369_594-4358del
ENST00000621708.4:c.4388+2754_4388+2765del	ENSP00000484454.1:n.4388+2754_4388+2765del
ENST00000622048.4:c.5143_5154del	ENSP00000482329.1:p.Ser1715_Ser1718del
NM_001142763.1:c.5365_5376del	NP_001136235.1:p.Ser1789_Ser1792del
NM_001142764.1:c.5350_5361del	NP_001136236.1:p.Ser1784_Ser1787del
NM_001142765.1:c.5137_5148del	NP_001136237.1:p.Ser1713_Ser1716del
NM_001142766.1:c.5335_5346del	NP_001136238.1:p.Ser1779_Ser1782del
NM_001142767.1:c.5224_5235del	NP_001136239.1:p.Ser1742_Ser1745del
NM_001142768.1:c.5284_5295del	NP_001136240.1:p.Ser1762_Ser1765del
NM_001142769.1:c.4409+2754_4409+2765del	NP_001136241.1:n.4409+2754_4409+2765del
NM_001142770.1:c.4373+2754_4373+2765del	NP_001136242.1:n.4373+2754_4373+2765del
NM_001142771.1:c.4388+2754_4388+2765del	NP_001136243.1:n.4388+2754_4388+2765del
NM_001142772.1:c.4373+2754_4373+2765del	NP_001136244.1:n.4373+2754_4373+2765del
NM_001142773.1:c.5275_5286del	NP_001136245.1:p.Ser1759_Ser1762del
NM_033056.3:c.5344_5355del	NP_149045.3:p.Ser1782_Ser1785del
NM_001142769.2:c.4409+2754_4409+2765del	NP_001136241.1:n.4409+2754_4409+2765del
NM_001142770.2:c.4373+2754_4373+2765del	NP_001136242.1:n.4373+2754_4373+2765del
NM_001354404.1:c.5278_5289del	NP_001341333.1:p.Ser1760_Ser1763del
NM_001354411.1:c.4388+5011_4388+5022del	NP_001341340.1:n.4388+5011_4388+5022del
NM_001354420.1:c.4367+5011_4367+5022del	NP_001341349.1:n.4367+5011_4367+5022del
NM_001354429.1:c.4368-4369_4368-4358del	NP_001341358.1:n.4368-4369_4368-4358del
XM_017016573.2:c.4388+2754_4388+2765del	XP_016872062.1:n.4388+2754_4388+2765del
XR_001747192.2:n.6357_6368del
XR_001747193.2:n.6348_6359del
NM_001142763.2:c.5365_5376del	NP_001136235.1:p.Ser1789_Ser1792del
NM_001142764.2:c.5350_5361del	NP_001136236.1:p.Ser1784_Ser1787del
NM_001142765.2:c.5137_5148del	NP_001136237.1:p.Ser1713_Ser1716del
NM_001142766.2:c.5335_5346del	NP_001136238.1:p.Ser1779_Ser1782del
NM_001142768.2:c.5284_5295del	NP_001136240.1:p.Ser1762_Ser1765del
NM_001142769.3:c.4409+2754_4409+2765del	NP_001136241.1:n.4409+2754_4409+2765del
NM_001142770.3:c.4373+2754_4373+2765del	NP_001136242.1:n.4373+2754_4373+2765del
NM_001142771.2:c.4388+2754_4388+2765del	NP_001136243.1:n.4388+2754_4388+2765del
NM_001142772.2:c.4373+2754_4373+2765del	NP_001136244.1:n.4373+2754_4373+2765del
NM_001142773.2:c.5275_5286del	NP_001136245.1:p.Ser1759_Ser1762del
NM_001354411.2:c.4388+5011_4388+5022del	NP_001341340.1:n.4388+5011_4388+5022del
NM_001354420.2:c.4367+5011_4367+5022del	NP_001341349.1:n.4367+5011_4367+5022del
NM_001354429.2:c.4368-4369_4368-4358del	NP_001341358.1:n.4368-4369_4368-4358del
NM_033056.4:c.5344_5355del MANE Plus Clinical	NP_149045.3:p.Ser1782_Ser1785del
NM_001142767.2:c.5224_5235del	NP_001136239.1:p.Ser1742_Ser1745del
NM_001354404.2:c.5278_5289del	NP_001341333.1:p.Ser1760_Ser1763del
NM_001384140.1:c.4368-2152_4368-2141del MANE Select	NP_001371069.1:n.4368-2152_4368-2141del