Canonical Allele Identifier: CA658822109

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 556252
• ClinVar RCV Id: RCV000672237
• dbSNP Id: rs1554820050
• MyVariant Identifiers: chr10:g.53822407_53822460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822416_53822469del , CM000672.2:g.53822416_53822469del	GRCh38
NC_000010.10:g.55582176_55582229del , CM000672.1:g.55582176_55582229del	GRCh37
NC_000010.9:g.55252182_55252235del	NCBI36
NG_009191.2:g.983832_983885del
NG_009191.3:g.1811723_1811776del

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+2676_4409+2729del	ENSP00000482794.1:n.4409+2676_4409+2729del
ENST00000320301.11:c.5266_5319del MANE Plus Clinical	ENSP00000322604.6:p.Pro1756_Pro1773del
ENST00000395445.6:c.4388+4933_4388+4986del	ENSP00000378832.2:n.4388+4933_4388+4986del
ENST00000613657.5:c.4409+2676_4409+2729del	ENSP00000482794.1:n.4409+2676_4409+2729del
ENST00000642496.1:c.3227-2230_3227-2177del
ENST00000644397.2:c.4368-2230_4368-2177del MANE Select	ENSP00000495195.1:n.4368-2230_4368-2177del
ENST00000320301.10:c.5266_5319del	ENSP00000322604.6:p.Pro1756_Pro1773del
ENST00000361849.7:c.5272_5325del	ENSP00000354950.3:p.Pro1758_Pro1775del
ENST00000373956.7:c.*3221_*3274del	ENSP00000363067.4:n.*3221_*3274del
ENST00000373957.7:c.5287_5340del	ENSP00000363068.4:p.Pro1763_Pro1780del
ENST00000373965.6:c.4373+2676_4373+2729del	ENSP00000363076.3:n.4373+2676_4373+2729del
ENST00000395430.5:c.5257_5310del	ENSP00000378818.1:p.Pro1753_Pro1770del
ENST00000395432.6:c.5146_5199del	ENSP00000378820.2:p.Pro1716_Pro1733del
ENST00000395433.5:c.5197_5250del	ENSP00000378821.1:p.Pro1733_Pro1750del
ENST00000395438.5:c.4371+4932_4371+4985del	ENSP00000378826.2:n.4371+4932_4371+4985del
ENST00000395440.5:c.1306-12914_1306-12861del	ENSP00000378827.1:n.1306-12914_1306-12861del
ENST00000395442.5:c.1099-12914_1099-12861del	ENSP00000378829.1:n.1099-12914_1099-12861del
ENST00000395445.5:c.4388+4933_4388+4986del	ENSP00000378832.2:n.4388+4933_4388+4986del
ENST00000395446.5:c.2092-12914_2092-12861del	ENSP00000378833.1:n.2092-12914_2092-12861del
ENST00000409834.5:c.3206+2676_3206+2729del	ENSP00000386693.1:n.3206+2676_3206+2729del
ENST00000414367.5:c.*447+4933_*447+4986del	ENSP00000412531.1:n.*447+4933_*447+4986del
ENST00000414778.5:c.4370+4933_4370+4986del	ENSP00000410304.2:n.4370+4933_4370+4986del
ENST00000437009.5:c.5059_5112del	ENSP00000412628.2:p.Pro1687_Pro1704del
ENST00000448885.5:c.*3227_*3280del	ENSP00000412320.1:n.*3227_*3280del
ENST00000463095.2:n.2285_2338del
ENST00000495484.5:c.462-4447_462-4394del	ENSP00000480780.1:n.462-4447_462-4394del
ENST00000612394.4:c.4406+4933_4406+4986del	ENSP00000482921.1:n.4406+4933_4406+4986del
ENST00000613657.4:c.4409+2676_4409+2729del	ENSP00000482794.1:n.4409+2676_4409+2729del
ENST00000614895.4:c.4385+4933_4385+4986del	ENSP00000478512.1:n.4385+4933_4385+4986del
ENST00000616114.4:c.4367+4933_4367+4986del	ENSP00000483745.1:n.4367+4933_4367+4986del
ENST00000617051.4:c.5293_5346del	ENSP00000484703.1:p.Pro1765_Pro1782del
ENST00000617271.4:c.4373+2676_4373+2729del	ENSP00000478076.1:n.4373+2676_4373+2729del
ENST00000618301.4:c.594-4447_594-4394del	ENSP00000482780.1:n.594-4447_594-4394del
ENST00000621708.4:c.4388+2676_4388+2729del	ENSP00000484454.1:n.4388+2676_4388+2729del
ENST00000622048.4:c.5065_5118del	ENSP00000482329.1:p.Pro1689_Pro1706del
NM_001142763.1:c.5287_5340del	NP_001136235.1:p.Pro1763_Pro1780del
NM_001142764.1:c.5272_5325del	NP_001136236.1:p.Pro1758_Pro1775del
NM_001142765.1:c.5059_5112del	NP_001136237.1:p.Pro1687_Pro1704del
NM_001142766.1:c.5257_5310del	NP_001136238.1:p.Pro1753_Pro1770del
NM_001142767.1:c.5146_5199del	NP_001136239.1:p.Pro1716_Pro1733del
NM_001142768.1:c.5206_5259del	NP_001136240.1:p.Pro1736_Pro1753del
NM_001142769.1:c.4409+2676_4409+2729del	NP_001136241.1:n.4409+2676_4409+2729del
NM_001142770.1:c.4373+2676_4373+2729del	NP_001136242.1:n.4373+2676_4373+2729del
NM_001142771.1:c.4388+2676_4388+2729del	NP_001136243.1:n.4388+2676_4388+2729del
NM_001142772.1:c.4373+2676_4373+2729del	NP_001136244.1:n.4373+2676_4373+2729del
NM_001142773.1:c.5197_5250del	NP_001136245.1:p.Pro1733_Pro1750del
NM_033056.3:c.5266_5319del	NP_149045.3:p.Pro1756_Pro1773del
NM_001142769.2:c.4409+2676_4409+2729del	NP_001136241.1:n.4409+2676_4409+2729del
NM_001142770.2:c.4373+2676_4373+2729del	NP_001136242.1:n.4373+2676_4373+2729del
NM_001354404.1:c.5200_5253del	NP_001341333.1:p.Pro1734_Pro1751del
NM_001354411.1:c.4388+4933_4388+4986del	NP_001341340.1:n.4388+4933_4388+4986del
NM_001354420.1:c.4367+4933_4367+4986del	NP_001341349.1:n.4367+4933_4367+4986del
NM_001354429.1:c.4368-4447_4368-4394del	NP_001341358.1:n.4368-4447_4368-4394del
XM_017016573.2:c.4388+2676_4388+2729del	XP_016872062.1:n.4388+2676_4388+2729del
XR_001747192.2:n.6279_6332del
XR_001747193.2:n.6270_6323del
NM_001142763.2:c.5287_5340del	NP_001136235.1:p.Pro1763_Pro1780del
NM_001142764.2:c.5272_5325del	NP_001136236.1:p.Pro1758_Pro1775del
NM_001142765.2:c.5059_5112del	NP_001136237.1:p.Pro1687_Pro1704del
NM_001142766.2:c.5257_5310del	NP_001136238.1:p.Pro1753_Pro1770del
NM_001142768.2:c.5206_5259del	NP_001136240.1:p.Pro1736_Pro1753del
NM_001142769.3:c.4409+2676_4409+2729del	NP_001136241.1:n.4409+2676_4409+2729del
NM_001142770.3:c.4373+2676_4373+2729del	NP_001136242.1:n.4373+2676_4373+2729del
NM_001142771.2:c.4388+2676_4388+2729del	NP_001136243.1:n.4388+2676_4388+2729del
NM_001142772.2:c.4373+2676_4373+2729del	NP_001136244.1:n.4373+2676_4373+2729del
NM_001142773.2:c.5197_5250del	NP_001136245.1:p.Pro1733_Pro1750del
NM_001354411.2:c.4388+4933_4388+4986del	NP_001341340.1:n.4388+4933_4388+4986del
NM_001354420.2:c.4367+4933_4367+4986del	NP_001341349.1:n.4367+4933_4367+4986del
NM_001354429.2:c.4368-4447_4368-4394del	NP_001341358.1:n.4368-4447_4368-4394del
NM_033056.4:c.5266_5319del MANE Plus Clinical	NP_149045.3:p.Pro1756_Pro1773del
NM_001142767.2:c.5146_5199del	NP_001136239.1:p.Pro1716_Pro1733del
NM_001354404.2:c.5200_5253del	NP_001341333.1:p.Pro1734_Pro1751del
NM_001384140.1:c.4368-2230_4368-2177del MANE Select	NP_001371069.1:n.4368-2230_4368-2177del