Canonical Allele Identifier: CA918677452

Gene: PCDH15

Linked Data

• dbSNP Id: rs1554819674

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822126_53822127dup , CM000672.2:g.53822126_53822127dup	GRCh38
NC_000010.10:g.55581886_55581887dup , CM000672.1:g.55581886_55581887dup	GRCh37
NC_000010.9:g.55251892_55251893dup	NCBI36
NG_009191.2:g.984166_984167dup
NG_009191.3:g.1812057_1812058dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+3010_4409+3011dup	ENSP00000482794.1:n.4409+3010_4409+3011du...
ENST00000320301.11:c.5600_5601dup MANE Plus Clinical	ENSP00000322604.6:p.Thr1868GlnfsTer23
ENST00000395445.6:c.4388+5267_4388+5268dup	ENSP00000378832.2:n.4388+5267_4388+5268du...
ENST00000613657.5:c.4409+3010_4409+3011dup	ENSP00000482794.1:n.4409+3010_4409+3011du...
ENST00000642496.1:c.3227-1896_3227-1895dup
ENST00000644397.2:c.4368-1896_4368-1895dup MANE Select	ENSP00000495195.1:n.4368-1896_4368-1895du...
ENST00000320301.10:c.5600_5601dup	ENSP00000322604.6:p.Thr1868GlnfsTer23
ENST00000361849.7:c.5606_5607dup	ENSP00000354950.3:p.Thr1870GlnfsTer23
ENST00000373956.7:c.*3555_*3556dup	ENSP00000363067.4:n.*3555_*3556dup
ENST00000373957.7:c.5621_5622dup	ENSP00000363068.4:p.Thr1875GlnfsTer23
ENST00000373965.6:c.4373+3010_4373+3011dup	ENSP00000363076.3:n.4373+3010_4373+3011du...
ENST00000395430.5:c.5591_5592dup	ENSP00000378818.1:p.Thr1865GlnfsTer23
ENST00000395432.6:c.5480_5481dup	ENSP00000378820.2:p.Thr1828GlnfsTer23
ENST00000395433.5:c.5531_5532dup	ENSP00000378821.1:p.Thr1845GlnfsTer23
ENST00000395438.5:c.4371+5266_4371+5267dup	ENSP00000378826.2:n.4371+5266_4371+5267du...
ENST00000395440.5:c.1306-12580_1306-12579dup	ENSP00000378827.1:n.1306-12580_1306-12579...
ENST00000395442.5:c.1099-12580_1099-12579dup	ENSP00000378829.1:n.1099-12580_1099-12579...
ENST00000395445.5:c.4388+5267_4388+5268dup	ENSP00000378832.2:n.4388+5267_4388+5268du...
ENST00000395446.5:c.2092-12580_2092-12579dup	ENSP00000378833.1:n.2092-12580_2092-12579...
ENST00000409834.5:c.3206+3010_3206+3011dup	ENSP00000386693.1:n.3206+3010_3206+3011du...
ENST00000414367.5:c.*447+5267_*447+5268dup	ENSP00000412531.1:n.*447+5267_*447+5268du...
ENST00000414778.5:c.4370+5267_4370+5268dup	ENSP00000410304.2:n.4370+5267_4370+5268du...
ENST00000437009.5:c.5393_5394dup	ENSP00000412628.2:p.Thr1799GlnfsTer23
ENST00000448885.5:c.*3561_*3562dup	ENSP00000412320.1:n.*3561_*3562dup
ENST00000463095.2:n.2619_2620dup
ENST00000495484.5:c.462-4113_462-4112dup	ENSP00000480780.1:n.462-4113_462-4112dup
ENST00000612394.4:c.4406+5267_4406+5268dup	ENSP00000482921.1:n.4406+5267_4406+5268du...
ENST00000613657.4:c.4409+3010_4409+3011dup	ENSP00000482794.1:n.4409+3010_4409+3011du...
ENST00000614895.4:c.4385+5267_4385+5268dup	ENSP00000478512.1:n.4385+5267_4385+5268du...
ENST00000616114.4:c.4367+5267_4367+5268dup	ENSP00000483745.1:n.4367+5267_4367+5268du...
ENST00000617051.4:c.5627_5628dup	ENSP00000484703.1:p.Thr1877GlnfsTer23
ENST00000617271.4:c.4373+3010_4373+3011dup	ENSP00000478076.1:n.4373+3010_4373+3011du...
ENST00000618301.4:c.594-4113_594-4112dup	ENSP00000482780.1:n.594-4113_594-4112dup
ENST00000621708.4:c.4388+3010_4388+3011dup	ENSP00000484454.1:n.4388+3010_4388+3011du...
ENST00000622048.4:c.5399_5400dup	ENSP00000482329.1:p.Thr1801GlnfsTer23
NM_001142763.1:c.5621_5622dup	NP_001136235.1:p.Thr1875GlnfsTer23
NM_001142764.1:c.5606_5607dup	NP_001136236.1:p.Thr1870GlnfsTer23
NM_001142765.1:c.5393_5394dup	NP_001136237.1:p.Thr1799GlnfsTer23
NM_001142766.1:c.5591_5592dup	NP_001136238.1:p.Thr1865GlnfsTer23
NM_001142767.1:c.5480_5481dup	NP_001136239.1:p.Thr1828GlnfsTer23
NM_001142768.1:c.5540_5541dup	NP_001136240.1:p.Thr1848GlnfsTer23
NM_001142769.1:c.4409+3010_4409+3011dup	NP_001136241.1:n.4409+3010_4409+3011dup
NM_001142770.1:c.4373+3010_4373+3011dup	NP_001136242.1:n.4373+3010_4373+3011dup
NM_001142771.1:c.4388+3010_4388+3011dup	NP_001136243.1:n.4388+3010_4388+3011dup
NM_001142772.1:c.4373+3010_4373+3011dup	NP_001136244.1:n.4373+3010_4373+3011dup
NM_001142773.1:c.5531_5532dup	NP_001136245.1:p.Thr1845GlnfsTer23
NM_033056.3:c.5600_5601dup	NP_149045.3:p.Thr1868GlnfsTer23
NM_001142769.2:c.4409+3010_4409+3011dup	NP_001136241.1:n.4409+3010_4409+3011dup
NM_001142770.2:c.4373+3010_4373+3011dup	NP_001136242.1:n.4373+3010_4373+3011dup
NM_001354404.1:c.5534_5535dup	NP_001341333.1:p.Thr1846GlnfsTer23
NM_001354411.1:c.4388+5267_4388+5268dup	NP_001341340.1:n.4388+5267_4388+5268dup
NM_001354420.1:c.4367+5267_4367+5268dup	NP_001341349.1:n.4367+5267_4367+5268dup
NM_001354429.1:c.4368-4113_4368-4112dup	NP_001341358.1:n.4368-4113_4368-4112dup
XM_017016573.2:c.4388+3010_4388+3011dup	XP_016872062.1:n.4388+3010_4388+3011dup
XR_001747192.2:n.6613_6614dup
XR_001747193.2:n.6604_6605dup
NM_001142763.2:c.5621_5622dup	NP_001136235.1:p.Thr1875GlnfsTer23
NM_001142764.2:c.5606_5607dup	NP_001136236.1:p.Thr1870GlnfsTer23
NM_001142765.2:c.5393_5394dup	NP_001136237.1:p.Thr1799GlnfsTer23
NM_001142766.2:c.5591_5592dup	NP_001136238.1:p.Thr1865GlnfsTer23
NM_001142768.2:c.5540_5541dup	NP_001136240.1:p.Thr1848GlnfsTer23
NM_001142769.3:c.4409+3010_4409+3011dup	NP_001136241.1:n.4409+3010_4409+3011dup
NM_001142770.3:c.4373+3010_4373+3011dup	NP_001136242.1:n.4373+3010_4373+3011dup
NM_001142771.2:c.4388+3010_4388+3011dup	NP_001136243.1:n.4388+3010_4388+3011dup
NM_001142772.2:c.4373+3010_4373+3011dup	NP_001136244.1:n.4373+3010_4373+3011dup
NM_001142773.2:c.5531_5532dup	NP_001136245.1:p.Thr1845GlnfsTer23
NM_001354411.2:c.4388+5267_4388+5268dup	NP_001341340.1:n.4388+5267_4388+5268dup
NM_001354420.2:c.4367+5267_4367+5268dup	NP_001341349.1:n.4367+5267_4367+5268dup
NM_001354429.2:c.4368-4113_4368-4112dup	NP_001341358.1:n.4368-4113_4368-4112dup
NM_033056.4:c.5600_5601dup MANE Plus Clinical	NP_149045.3:p.Thr1868GlnfsTer23
NM_001142767.2:c.5480_5481dup	NP_001136239.1:p.Thr1828GlnfsTer23
NM_001354404.2:c.5534_5535dup	NP_001341333.1:p.Thr1846GlnfsTer23
NM_001384140.1:c.4368-1896_4368-1895dup MANE Select	NP_001371069.1:n.4368-1896_4368-1895dup