Canonical Allele Identifier: CA5505028

Gene: PCDH15

Linked Data

• dbSNP Id: rs1564532246
• ExAC: 10:55582027 GGAGGAAGAGGAGTTGGAAATGGAGGTAGAAGAGGTGGTGTTGGGGGACCAGACGTTGAAACGGAAAGTGGAAAAAATGTAGGAGGAGGAA / G
• gnomAD v2: 10-55582027-GGAGGAAGAGGAGTTGGAAATGGAGGTAGAAGAGGTGGTGTTGGGGGACCAGACGTTGAAACGGAAAGTGGAAAAAATGTAGGAGGAGGAA-G
• gnomAD v4: 10-53822267-GGAGGAAGAGGAGTTGGAAATGGAGGTAGAAGAGGTGGTGTTGGGGGACCAGACGTTGAAACGGAAAGTGGAAAAAATGTAGGAGGAGGAA-G
• MyVariant Identifiers: chr10:g.55582028_55582117del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822278_53822367del , CM000672.2:g.53822278_53822367del	GRCh38
NC_000010.10:g.55582038_55582127del , CM000672.1:g.55582038_55582127del	GRCh37
NC_000010.9:g.55252044_55252133del	NCBI36
NG_009191.2:g.983935_984024del
NG_009191.3:g.1811826_1811915del

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+2779_4409+2868del	ENSP00000482794.1:n.4409+2779_4409+2868del
ENST00000320301.11:c.5369_5458del MANE Plus Clinical	ENSP00000322604.6:p.Leu1790_Pro1819del
ENST00000395445.6:c.4388+5036_4388+5125del	ENSP00000378832.2:n.4388+5036_4388+5125del
ENST00000613657.5:c.4409+2779_4409+2868del	ENSP00000482794.1:n.4409+2779_4409+2868del
ENST00000642496.1:c.3227-2127_3227-2038del
ENST00000644397.2:c.4368-2127_4368-2038del MANE Select	ENSP00000495195.1:n.4368-2127_4368-2038del
ENST00000320301.10:c.5369_5458del	ENSP00000322604.6:p.Leu1790_Pro1819del
ENST00000361849.7:c.5375_5464del	ENSP00000354950.3:p.Leu1792_Pro1821del
ENST00000373956.7:c.*3324_*3413del	ENSP00000363067.4:n.*3324_*3413del
ENST00000373957.7:c.5390_5479del	ENSP00000363068.4:p.Leu1797_Pro1826del
ENST00000373965.6:c.4373+2779_4373+2868del	ENSP00000363076.3:n.4373+2779_4373+2868del
ENST00000395430.5:c.5360_5449del	ENSP00000378818.1:p.Leu1787_Pro1816del
ENST00000395432.6:c.5249_5338del	ENSP00000378820.2:p.Leu1750_Pro1779del
ENST00000395433.5:c.5300_5389del	ENSP00000378821.1:p.Leu1767_Pro1796del
ENST00000395438.5:c.4371+5035_4371+5124del	ENSP00000378826.2:n.4371+5035_4371+5124del
ENST00000395440.5:c.1306-12811_1306-12722del	ENSP00000378827.1:n.1306-12811_1306-12722del
ENST00000395442.5:c.1099-12811_1099-12722del	ENSP00000378829.1:n.1099-12811_1099-12722del
ENST00000395445.5:c.4388+5036_4388+5125del	ENSP00000378832.2:n.4388+5036_4388+5125del
ENST00000395446.5:c.2092-12811_2092-12722del	ENSP00000378833.1:n.2092-12811_2092-12722del
ENST00000409834.5:c.3206+2779_3206+2868del	ENSP00000386693.1:n.3206+2779_3206+2868del
ENST00000414367.5:c.*447+5036_*447+5125del	ENSP00000412531.1:n.*447+5036_*447+5125del
ENST00000414778.5:c.4370+5036_4370+5125del	ENSP00000410304.2:n.4370+5036_4370+5125del
ENST00000437009.5:c.5162_5251del	ENSP00000412628.2:p.Leu1721_Pro1750del
ENST00000448885.5:c.*3330_*3419del	ENSP00000412320.1:n.*3330_*3419del
ENST00000463095.2:n.2388_2477del
ENST00000495484.5:c.462-4344_462-4255del	ENSP00000480780.1:n.462-4344_462-4255del
ENST00000612394.4:c.4406+5036_4406+5125del	ENSP00000482921.1:n.4406+5036_4406+5125del
ENST00000613657.4:c.4409+2779_4409+2868del	ENSP00000482794.1:n.4409+2779_4409+2868del
ENST00000614895.4:c.4385+5036_4385+5125del	ENSP00000478512.1:n.4385+5036_4385+5125del
ENST00000616114.4:c.4367+5036_4367+5125del	ENSP00000483745.1:n.4367+5036_4367+5125del
ENST00000617051.4:c.5396_5485del	ENSP00000484703.1:p.Leu1799_Pro1828del
ENST00000617271.4:c.4373+2779_4373+2868del	ENSP00000478076.1:n.4373+2779_4373+2868del
ENST00000618301.4:c.594-4344_594-4255del	ENSP00000482780.1:n.594-4344_594-4255del
ENST00000621708.4:c.4388+2779_4388+2868del	ENSP00000484454.1:n.4388+2779_4388+2868del
ENST00000622048.4:c.5168_5257del	ENSP00000482329.1:p.Leu1723_Pro1752del
NM_001142763.1:c.5390_5479del	NP_001136235.1:p.Leu1797_Pro1826del
NM_001142764.1:c.5375_5464del	NP_001136236.1:p.Leu1792_Pro1821del
NM_001142765.1:c.5162_5251del	NP_001136237.1:p.Leu1721_Pro1750del
NM_001142766.1:c.5360_5449del	NP_001136238.1:p.Leu1787_Pro1816del
NM_001142767.1:c.5249_5338del	NP_001136239.1:p.Leu1750_Pro1779del
NM_001142768.1:c.5309_5398del	NP_001136240.1:p.Leu1770_Pro1799del
NM_001142769.1:c.4409+2779_4409+2868del	NP_001136241.1:n.4409+2779_4409+2868del
NM_001142770.1:c.4373+2779_4373+2868del	NP_001136242.1:n.4373+2779_4373+2868del
NM_001142771.1:c.4388+2779_4388+2868del	NP_001136243.1:n.4388+2779_4388+2868del
NM_001142772.1:c.4373+2779_4373+2868del	NP_001136244.1:n.4373+2779_4373+2868del
NM_001142773.1:c.5300_5389del	NP_001136245.1:p.Leu1767_Pro1796del
NM_033056.3:c.5369_5458del	NP_149045.3:p.Leu1790_Pro1819del
NM_001142769.2:c.4409+2779_4409+2868del	NP_001136241.1:n.4409+2779_4409+2868del
NM_001142770.2:c.4373+2779_4373+2868del	NP_001136242.1:n.4373+2779_4373+2868del
NM_001354404.1:c.5303_5392del	NP_001341333.1:p.Leu1768_Pro1797del
NM_001354411.1:c.4388+5036_4388+5125del	NP_001341340.1:n.4388+5036_4388+5125del
NM_001354420.1:c.4367+5036_4367+5125del	NP_001341349.1:n.4367+5036_4367+5125del
NM_001354429.1:c.4368-4344_4368-4255del	NP_001341358.1:n.4368-4344_4368-4255del
XM_017016573.2:c.4388+2779_4388+2868del	XP_016872062.1:n.4388+2779_4388+2868del
XR_001747192.2:n.6382_6471del
XR_001747193.2:n.6373_6462del
NM_001142763.2:c.5390_5479del	NP_001136235.1:p.Leu1797_Pro1826del
NM_001142764.2:c.5375_5464del	NP_001136236.1:p.Leu1792_Pro1821del
NM_001142765.2:c.5162_5251del	NP_001136237.1:p.Leu1721_Pro1750del
NM_001142766.2:c.5360_5449del	NP_001136238.1:p.Leu1787_Pro1816del
NM_001142768.2:c.5309_5398del	NP_001136240.1:p.Leu1770_Pro1799del
NM_001142769.3:c.4409+2779_4409+2868del	NP_001136241.1:n.4409+2779_4409+2868del
NM_001142770.3:c.4373+2779_4373+2868del	NP_001136242.1:n.4373+2779_4373+2868del
NM_001142771.2:c.4388+2779_4388+2868del	NP_001136243.1:n.4388+2779_4388+2868del
NM_001142772.2:c.4373+2779_4373+2868del	NP_001136244.1:n.4373+2779_4373+2868del
NM_001142773.2:c.5300_5389del	NP_001136245.1:p.Leu1767_Pro1796del
NM_001354411.2:c.4388+5036_4388+5125del	NP_001341340.1:n.4388+5036_4388+5125del
NM_001354420.2:c.4367+5036_4367+5125del	NP_001341349.1:n.4367+5036_4367+5125del
NM_001354429.2:c.4368-4344_4368-4255del	NP_001341358.1:n.4368-4344_4368-4255del
NM_033056.4:c.5369_5458del MANE Plus Clinical	NP_149045.3:p.Leu1790_Pro1819del
NM_001142767.2:c.5249_5338del	NP_001136239.1:p.Leu1750_Pro1779del
NM_001354404.2:c.5303_5392del	NP_001341333.1:p.Leu1768_Pro1797del
NM_001384140.1:c.4368-2127_4368-2038del MANE Select	NP_001371069.1:n.4368-2127_4368-2038del