Canonical Allele Identifier: CA2739265375

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 2788461
• ClinVar RCV Id: RCV003674073

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822383_53822466del , CM000672.2:g.53822383_53822466del	GRCh38
NC_000010.10:g.55582143_55582226del , CM000672.1:g.55582143_55582226del	GRCh37
NC_000010.9:g.55252149_55252232del	NCBI36
NG_009191.2:g.983838_983921del
NG_009191.3:g.1811729_1811812del

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+2682_4409+2765del	ENSP00000482794.1:n.4409+2682_4409+2765del
ENST00000320301.11:c.5272_5355del MANE Plus Clinical	ENSP00000322604.6:p.Pro1758_Ser1785del
ENST00000395445.6:c.4388+4939_4388+5022del	ENSP00000378832.2:n.4388+4939_4388+5022del
ENST00000613657.5:c.4409+2682_4409+2765del	ENSP00000482794.1:n.4409+2682_4409+2765del
ENST00000642496.1:c.3227-2224_3227-2141del
ENST00000644397.2:c.4368-2224_4368-2141del MANE Select	ENSP00000495195.1:n.4368-2224_4368-2141del
ENST00000320301.10:c.5272_5355del	ENSP00000322604.6:p.Pro1758_Ser1785del
ENST00000361849.7:c.5278_5361del	ENSP00000354950.3:p.Pro1760_Ser1787del
ENST00000373956.7:c.*3227_*3310del	ENSP00000363067.4:n.*3227_*3310del
ENST00000373957.7:c.5293_5376del	ENSP00000363068.4:p.Pro1765_Ser1792del
ENST00000373965.6:c.4373+2682_4373+2765del	ENSP00000363076.3:n.4373+2682_4373+2765del
ENST00000395430.5:c.5263_5346del	ENSP00000378818.1:p.Pro1755_Ser1782del
ENST00000395432.6:c.5152_5235del	ENSP00000378820.2:p.Pro1718_Ser1745del
ENST00000395433.5:c.5203_5286del	ENSP00000378821.1:p.Pro1735_Ser1762del
ENST00000395438.5:c.4371+4938_4371+5021del	ENSP00000378826.2:n.4371+4938_4371+5021del
ENST00000395440.5:c.1306-12908_1306-12825del	ENSP00000378827.1:n.1306-12908_1306-12825del
ENST00000395442.5:c.1099-12908_1099-12825del	ENSP00000378829.1:n.1099-12908_1099-12825del
ENST00000395445.5:c.4388+4939_4388+5022del	ENSP00000378832.2:n.4388+4939_4388+5022del
ENST00000395446.5:c.2092-12908_2092-12825del	ENSP00000378833.1:n.2092-12908_2092-12825del
ENST00000409834.5:c.3206+2682_3206+2765del	ENSP00000386693.1:n.3206+2682_3206+2765del
ENST00000414367.5:c.*447+4939_*447+5022del	ENSP00000412531.1:n.*447+4939_*447+5022del
ENST00000414778.5:c.4370+4939_4370+5022del	ENSP00000410304.2:n.4370+4939_4370+5022del
ENST00000437009.5:c.5065_5148del	ENSP00000412628.2:p.Pro1689_Ser1716del
ENST00000448885.5:c.*3233_*3316del	ENSP00000412320.1:n.*3233_*3316del
ENST00000463095.2:n.2291_2374del
ENST00000495484.5:c.462-4441_462-4358del	ENSP00000480780.1:n.462-4441_462-4358del
ENST00000612394.4:c.4406+4939_4406+5022del	ENSP00000482921.1:n.4406+4939_4406+5022del
ENST00000613657.4:c.4409+2682_4409+2765del	ENSP00000482794.1:n.4409+2682_4409+2765del
ENST00000614895.4:c.4385+4939_4385+5022del	ENSP00000478512.1:n.4385+4939_4385+5022del
ENST00000616114.4:c.4367+4939_4367+5022del	ENSP00000483745.1:n.4367+4939_4367+5022del
ENST00000617051.4:c.5299_5382del	ENSP00000484703.1:p.Pro1767_Ser1794del
ENST00000617271.4:c.4373+2682_4373+2765del	ENSP00000478076.1:n.4373+2682_4373+2765del
ENST00000618301.4:c.594-4441_594-4358del	ENSP00000482780.1:n.594-4441_594-4358del
ENST00000621708.4:c.4388+2682_4388+2765del	ENSP00000484454.1:n.4388+2682_4388+2765del
ENST00000622048.4:c.5071_5154del	ENSP00000482329.1:p.Pro1691_Ser1718del
NM_001142763.1:c.5293_5376del	NP_001136235.1:p.Pro1765_Ser1792del
NM_001142764.1:c.5278_5361del	NP_001136236.1:p.Pro1760_Ser1787del
NM_001142765.1:c.5065_5148del	NP_001136237.1:p.Pro1689_Ser1716del
NM_001142766.1:c.5263_5346del	NP_001136238.1:p.Pro1755_Ser1782del
NM_001142767.1:c.5152_5235del	NP_001136239.1:p.Pro1718_Ser1745del
NM_001142768.1:c.5212_5295del	NP_001136240.1:p.Pro1738_Ser1765del
NM_001142769.1:c.4409+2682_4409+2765del	NP_001136241.1:n.4409+2682_4409+2765del
NM_001142770.1:c.4373+2682_4373+2765del	NP_001136242.1:n.4373+2682_4373+2765del
NM_001142771.1:c.4388+2682_4388+2765del	NP_001136243.1:n.4388+2682_4388+2765del
NM_001142772.1:c.4373+2682_4373+2765del	NP_001136244.1:n.4373+2682_4373+2765del
NM_001142773.1:c.5203_5286del	NP_001136245.1:p.Pro1735_Ser1762del
NM_033056.3:c.5272_5355del	NP_149045.3:p.Pro1758_Ser1785del
NM_001142769.2:c.4409+2682_4409+2765del	NP_001136241.1:n.4409+2682_4409+2765del
NM_001142770.2:c.4373+2682_4373+2765del	NP_001136242.1:n.4373+2682_4373+2765del
NM_001354404.1:c.5206_5289del	NP_001341333.1:p.Pro1736_Ser1763del
NM_001354411.1:c.4388+4939_4388+5022del	NP_001341340.1:n.4388+4939_4388+5022del
NM_001354420.1:c.4367+4939_4367+5022del	NP_001341349.1:n.4367+4939_4367+5022del
NM_001354429.1:c.4368-4441_4368-4358del	NP_001341358.1:n.4368-4441_4368-4358del
XM_017016573.2:c.4388+2682_4388+2765del	XP_016872062.1:n.4388+2682_4388+2765del
XR_001747192.2:n.6285_6368del
XR_001747193.2:n.6276_6359del
NM_001142763.2:c.5293_5376del	NP_001136235.1:p.Pro1765_Ser1792del
NM_001142764.2:c.5278_5361del	NP_001136236.1:p.Pro1760_Ser1787del
NM_001142765.2:c.5065_5148del	NP_001136237.1:p.Pro1689_Ser1716del
NM_001142766.2:c.5263_5346del	NP_001136238.1:p.Pro1755_Ser1782del
NM_001142768.2:c.5212_5295del	NP_001136240.1:p.Pro1738_Ser1765del
NM_001142769.3:c.4409+2682_4409+2765del	NP_001136241.1:n.4409+2682_4409+2765del
NM_001142770.3:c.4373+2682_4373+2765del	NP_001136242.1:n.4373+2682_4373+2765del
NM_001142771.2:c.4388+2682_4388+2765del	NP_001136243.1:n.4388+2682_4388+2765del
NM_001142772.2:c.4373+2682_4373+2765del	NP_001136244.1:n.4373+2682_4373+2765del
NM_001142773.2:c.5203_5286del	NP_001136245.1:p.Pro1735_Ser1762del
NM_001354411.2:c.4388+4939_4388+5022del	NP_001341340.1:n.4388+4939_4388+5022del
NM_001354420.2:c.4367+4939_4367+5022del	NP_001341349.1:n.4367+4939_4367+5022del
NM_001354429.2:c.4368-4441_4368-4358del	NP_001341358.1:n.4368-4441_4368-4358del
NM_033056.4:c.5272_5355del MANE Plus Clinical	NP_149045.3:p.Pro1758_Ser1785del
NM_001142767.2:c.5152_5235del	NP_001136239.1:p.Pro1718_Ser1745del
NM_001354404.2:c.5206_5289del	NP_001341333.1:p.Pro1736_Ser1763del
NM_001384140.1:c.4368-2224_4368-2141del MANE Select	NP_001371069.1:n.4368-2224_4368-2141del