Canonical Allele Identifier: CA5505085

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1566384
• ClinVar RCV Id: RCV002207385
• dbSNP Id: rs369404101
• ExAC: 10:55582211 GAGGAGAAGGAGGAGAAAT / G
• gnomAD v2: 10-55582211-GAGGAGAAGGAGGAGAAAT-G
• gnomAD v3: 10-53822451-GAGGAGAAGGAGGAGAAAT-G
• gnomAD v4: 10-53822451-GAGGAGAAGGAGGAGAAAT-G
• MyVariant Identifiers: chr10:g.55582212_55582229del (hg19) ; chr10:g.53822452_53822469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822457_53822474del , CM000672.2:g.53822457_53822474del	GRCh38
NC_000010.10:g.55582217_55582234del , CM000672.1:g.55582217_55582234del	GRCh37
NC_000010.9:g.55252223_55252240del	NCBI36
NG_009191.2:g.983823_983840del
NG_009191.3:g.1811714_1811731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2667_4409+2684del	ENSP00000482794.1:n.4409+2667_4409+2684del
ENST00000320301.11:c.5257_5274del MANE Plus Clinical	ENSP00000322604.6:p.Ile1753_Pro1758del
ENST00000395445.6:c.4388+4924_4388+4941del	ENSP00000378832.2:n.4388+4924_4388+4941del
ENST00000613657.5:c.4409+2667_4409+2684del	ENSP00000482794.1:n.4409+2667_4409+2684del
ENST00000642496.1:c.3227-2239_3227-2222del
ENST00000644397.2:c.4368-2239_4368-2222del MANE Select	ENSP00000495195.1:n.4368-2239_4368-2222del
ENST00000320301.10:c.5257_5274del	ENSP00000322604.6:p.Ile1753_Pro1758del
ENST00000361849.7:c.5263_5280del	ENSP00000354950.3:p.Ile1755_Pro1760del
ENST00000373956.7:c.*3212_*3229del	ENSP00000363067.4:n.*3212_*3229del
ENST00000373957.7:c.5278_5295del	ENSP00000363068.4:p.Ile1760_Pro1765del
ENST00000373965.6:c.4373+2667_4373+2684del	ENSP00000363076.3:n.4373+2667_4373+2684del
ENST00000395430.5:c.5248_5265del	ENSP00000378818.1:p.Ile1750_Pro1755del
ENST00000395432.6:c.5137_5154del	ENSP00000378820.2:p.Ile1713_Pro1718del
ENST00000395433.5:c.5188_5205del	ENSP00000378821.1:p.Ile1730_Pro1735del
ENST00000395438.5:c.4371+4923_4371+4940del	ENSP00000378826.2:n.4371+4923_4371+4940del
ENST00000395440.5:c.1306-12923_1306-12906del	ENSP00000378827.1:n.1306-12923_1306-12906del
ENST00000395442.5:c.1099-12923_1099-12906del	ENSP00000378829.1:n.1099-12923_1099-12906del
ENST00000395445.5:c.4388+4924_4388+4941del	ENSP00000378832.2:n.4388+4924_4388+4941del
ENST00000395446.5:c.2092-12923_2092-12906del	ENSP00000378833.1:n.2092-12923_2092-12906del
ENST00000409834.5:c.3206+2667_3206+2684del	ENSP00000386693.1:n.3206+2667_3206+2684del
ENST00000414367.5:c.*447+4924_*447+4941del	ENSP00000412531.1:n.*447+4924_*447+4941del
ENST00000414778.5:c.4370+4924_4370+4941del	ENSP00000410304.2:n.4370+4924_4370+4941del
ENST00000437009.5:c.5050_5067del	ENSP00000412628.2:p.Ile1684_Pro1689del
ENST00000448885.5:c.*3218_*3235del	ENSP00000412320.1:n.*3218_*3235del
ENST00000463095.2:n.2276_2293del
ENST00000495484.5:c.462-4456_462-4439del	ENSP00000480780.1:n.462-4456_462-4439del
ENST00000612394.4:c.4406+4924_4406+4941del	ENSP00000482921.1:n.4406+4924_4406+4941del
ENST00000613657.4:c.4409+2667_4409+2684del	ENSP00000482794.1:n.4409+2667_4409+2684del
ENST00000614895.4:c.4385+4924_4385+4941del	ENSP00000478512.1:n.4385+4924_4385+4941del
ENST00000616114.4:c.4367+4924_4367+4941del	ENSP00000483745.1:n.4367+4924_4367+4941del
ENST00000617051.4:c.5284_5301del	ENSP00000484703.1:p.Ile1762_Pro1767del
ENST00000617271.4:c.4373+2667_4373+2684del	ENSP00000478076.1:n.4373+2667_4373+2684del
ENST00000618301.4:c.594-4456_594-4439del	ENSP00000482780.1:n.594-4456_594-4439del
ENST00000621708.4:c.4388+2667_4388+2684del	ENSP00000484454.1:n.4388+2667_4388+2684del
ENST00000622048.4:c.5056_5073del	ENSP00000482329.1:p.Ile1686_Pro1691del
NM_001142763.1:c.5278_5295del	NP_001136235.1:p.Ile1760_Pro1765del
NM_001142764.1:c.5263_5280del	NP_001136236.1:p.Ile1755_Pro1760del
NM_001142765.1:c.5050_5067del	NP_001136237.1:p.Ile1684_Pro1689del
NM_001142766.1:c.5248_5265del	NP_001136238.1:p.Ile1750_Pro1755del
NM_001142767.1:c.5137_5154del	NP_001136239.1:p.Ile1713_Pro1718del
NM_001142768.1:c.5197_5214del	NP_001136240.1:p.Ile1733_Pro1738del
NM_001142769.1:c.4409+2667_4409+2684del	NP_001136241.1:n.4409+2667_4409+2684del
NM_001142770.1:c.4373+2667_4373+2684del	NP_001136242.1:n.4373+2667_4373+2684del
NM_001142771.1:c.4388+2667_4388+2684del	NP_001136243.1:n.4388+2667_4388+2684del
NM_001142772.1:c.4373+2667_4373+2684del	NP_001136244.1:n.4373+2667_4373+2684del
NM_001142773.1:c.5188_5205del	NP_001136245.1:p.Ile1730_Pro1735del
NM_033056.3:c.5257_5274del	NP_149045.3:p.Ile1753_Pro1758del
NM_001142769.2:c.4409+2667_4409+2684del	NP_001136241.1:n.4409+2667_4409+2684del
NM_001142770.2:c.4373+2667_4373+2684del	NP_001136242.1:n.4373+2667_4373+2684del
NM_001354404.1:c.5191_5208del	NP_001341333.1:p.Ile1731_Pro1736del
NM_001354411.1:c.4388+4924_4388+4941del	NP_001341340.1:n.4388+4924_4388+4941del
NM_001354420.1:c.4367+4924_4367+4941del	NP_001341349.1:n.4367+4924_4367+4941del
NM_001354429.1:c.4368-4456_4368-4439del	NP_001341358.1:n.4368-4456_4368-4439del
XM_017016573.2:c.4388+2667_4388+2684del	XP_016872062.1:n.4388+2667_4388+2684del
XR_001747192.2:n.6270_6287del
XR_001747193.2:n.6261_6278del
NM_001142763.2:c.5278_5295del	NP_001136235.1:p.Ile1760_Pro1765del
NM_001142764.2:c.5263_5280del	NP_001136236.1:p.Ile1755_Pro1760del
NM_001142765.2:c.5050_5067del	NP_001136237.1:p.Ile1684_Pro1689del
NM_001142766.2:c.5248_5265del	NP_001136238.1:p.Ile1750_Pro1755del
NM_001142768.2:c.5197_5214del	NP_001136240.1:p.Ile1733_Pro1738del
NM_001142769.3:c.4409+2667_4409+2684del	NP_001136241.1:n.4409+2667_4409+2684del
NM_001142770.3:c.4373+2667_4373+2684del	NP_001136242.1:n.4373+2667_4373+2684del
NM_001142771.2:c.4388+2667_4388+2684del	NP_001136243.1:n.4388+2667_4388+2684del
NM_001142772.2:c.4373+2667_4373+2684del	NP_001136244.1:n.4373+2667_4373+2684del
NM_001142773.2:c.5188_5205del	NP_001136245.1:p.Ile1730_Pro1735del
NM_001354411.2:c.4388+4924_4388+4941del	NP_001341340.1:n.4388+4924_4388+4941del
NM_001354420.2:c.4367+4924_4367+4941del	NP_001341349.1:n.4367+4924_4367+4941del
NM_001354429.2:c.4368-4456_4368-4439del	NP_001341358.1:n.4368-4456_4368-4439del
NM_033056.4:c.5257_5274del MANE Plus Clinical	NP_149045.3:p.Ile1753_Pro1758del
NM_001142767.2:c.5137_5154del	NP_001136239.1:p.Ile1713_Pro1718del
NM_001354404.2:c.5191_5208del	NP_001341333.1:p.Ile1731_Pro1736del
NM_001384140.1:c.4368-2239_4368-2222del MANE Select	NP_001371069.1:n.4368-2239_4368-2222del