Canonical Allele Identifier: CA918677454

Gene: PCDH15

Linked Data

• dbSNP Id: rs1554819684

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822128_53822129dup , CM000672.2:g.53822128_53822129dup	GRCh38
NC_000010.10:g.55581888_55581889dup , CM000672.1:g.55581888_55581889dup	GRCh37
NC_000010.9:g.55251894_55251895dup	NCBI36
NG_009191.2:g.984163_984164dup
NG_009191.3:g.1812054_1812055dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+3007_4409+3008dup	ENSP00000482794.1:n.4409+3007_4409+3008du...
ENST00000320301.11:c.5597_5598dup MANE Plus Clinical	ENSP00000322604.6:p.Thr1867GlnfsTer24
ENST00000395445.6:c.4388+5264_4388+5265dup	ENSP00000378832.2:n.4388+5264_4388+5265du...
ENST00000613657.5:c.4409+3007_4409+3008dup	ENSP00000482794.1:n.4409+3007_4409+3008du...
ENST00000642496.1:c.3227-1899_3227-1898dup
ENST00000644397.2:c.4368-1899_4368-1898dup MANE Select	ENSP00000495195.1:n.4368-1899_4368-1898du...
ENST00000320301.10:c.5597_5598dup	ENSP00000322604.6:p.Thr1867GlnfsTer24
ENST00000361849.7:c.5603_5604dup	ENSP00000354950.3:p.Thr1869GlnfsTer24
ENST00000373956.7:c.*3552_*3553dup	ENSP00000363067.4:n.*3552_*3553dup
ENST00000373957.7:c.5618_5619dup	ENSP00000363068.4:p.Thr1874GlnfsTer24
ENST00000373965.6:c.4373+3007_4373+3008dup	ENSP00000363076.3:n.4373+3007_4373+3008du...
ENST00000395430.5:c.5588_5589dup	ENSP00000378818.1:p.Thr1864GlnfsTer24
ENST00000395432.6:c.5477_5478dup	ENSP00000378820.2:p.Thr1827GlnfsTer24
ENST00000395433.5:c.5528_5529dup	ENSP00000378821.1:p.Thr1844GlnfsTer24
ENST00000395438.5:c.4371+5263_4371+5264dup	ENSP00000378826.2:n.4371+5263_4371+5264du...
ENST00000395440.5:c.1306-12583_1306-12582dup	ENSP00000378827.1:n.1306-12583_1306-12582...
ENST00000395442.5:c.1099-12583_1099-12582dup	ENSP00000378829.1:n.1099-12583_1099-12582...
ENST00000395445.5:c.4388+5264_4388+5265dup	ENSP00000378832.2:n.4388+5264_4388+5265du...
ENST00000395446.5:c.2092-12583_2092-12582dup	ENSP00000378833.1:n.2092-12583_2092-12582...
ENST00000409834.5:c.3206+3007_3206+3008dup	ENSP00000386693.1:n.3206+3007_3206+3008du...
ENST00000414367.5:c.*447+5264_*447+5265dup	ENSP00000412531.1:n.*447+5264_*447+5265du...
ENST00000414778.5:c.4370+5264_4370+5265dup	ENSP00000410304.2:n.4370+5264_4370+5265du...
ENST00000437009.5:c.5390_5391dup	ENSP00000412628.2:p.Thr1798GlnfsTer24
ENST00000448885.5:c.*3558_*3559dup	ENSP00000412320.1:n.*3558_*3559dup
ENST00000463095.2:n.2616_2617dup
ENST00000495484.5:c.462-4116_462-4115dup	ENSP00000480780.1:n.462-4116_462-4115dup
ENST00000612394.4:c.4406+5264_4406+5265dup	ENSP00000482921.1:n.4406+5264_4406+5265du...
ENST00000613657.4:c.4409+3007_4409+3008dup	ENSP00000482794.1:n.4409+3007_4409+3008du...
ENST00000614895.4:c.4385+5264_4385+5265dup	ENSP00000478512.1:n.4385+5264_4385+5265du...
ENST00000616114.4:c.4367+5264_4367+5265dup	ENSP00000483745.1:n.4367+5264_4367+5265du...
ENST00000617051.4:c.5624_5625dup	ENSP00000484703.1:p.Thr1876GlnfsTer24
ENST00000617271.4:c.4373+3007_4373+3008dup	ENSP00000478076.1:n.4373+3007_4373+3008du...
ENST00000618301.4:c.594-4116_594-4115dup	ENSP00000482780.1:n.594-4116_594-4115dup
ENST00000621708.4:c.4388+3007_4388+3008dup	ENSP00000484454.1:n.4388+3007_4388+3008du...
ENST00000622048.4:c.5396_5397dup	ENSP00000482329.1:p.Thr1800GlnfsTer24
NM_001142763.1:c.5618_5619dup	NP_001136235.1:p.Thr1874GlnfsTer24
NM_001142764.1:c.5603_5604dup	NP_001136236.1:p.Thr1869GlnfsTer24
NM_001142765.1:c.5390_5391dup	NP_001136237.1:p.Thr1798GlnfsTer24
NM_001142766.1:c.5588_5589dup	NP_001136238.1:p.Thr1864GlnfsTer24
NM_001142767.1:c.5477_5478dup	NP_001136239.1:p.Thr1827GlnfsTer24
NM_001142768.1:c.5537_5538dup	NP_001136240.1:p.Thr1847GlnfsTer24
NM_001142769.1:c.4409+3007_4409+3008dup	NP_001136241.1:n.4409+3007_4409+3008dup
NM_001142770.1:c.4373+3007_4373+3008dup	NP_001136242.1:n.4373+3007_4373+3008dup
NM_001142771.1:c.4388+3007_4388+3008dup	NP_001136243.1:n.4388+3007_4388+3008dup
NM_001142772.1:c.4373+3007_4373+3008dup	NP_001136244.1:n.4373+3007_4373+3008dup
NM_001142773.1:c.5528_5529dup	NP_001136245.1:p.Thr1844GlnfsTer24
NM_033056.3:c.5597_5598dup	NP_149045.3:p.Thr1867GlnfsTer24
NM_001142769.2:c.4409+3007_4409+3008dup	NP_001136241.1:n.4409+3007_4409+3008dup
NM_001142770.2:c.4373+3007_4373+3008dup	NP_001136242.1:n.4373+3007_4373+3008dup
NM_001354404.1:c.5531_5532dup	NP_001341333.1:p.Thr1845GlnfsTer24
NM_001354411.1:c.4388+5264_4388+5265dup	NP_001341340.1:n.4388+5264_4388+5265dup
NM_001354420.1:c.4367+5264_4367+5265dup	NP_001341349.1:n.4367+5264_4367+5265dup
NM_001354429.1:c.4368-4116_4368-4115dup	NP_001341358.1:n.4368-4116_4368-4115dup
XM_017016573.2:c.4388+3007_4388+3008dup	XP_016872062.1:n.4388+3007_4388+3008dup
XR_001747192.2:n.6610_6611dup
XR_001747193.2:n.6601_6602dup
NM_001142763.2:c.5618_5619dup	NP_001136235.1:p.Thr1874GlnfsTer24
NM_001142764.2:c.5603_5604dup	NP_001136236.1:p.Thr1869GlnfsTer24
NM_001142765.2:c.5390_5391dup	NP_001136237.1:p.Thr1798GlnfsTer24
NM_001142766.2:c.5588_5589dup	NP_001136238.1:p.Thr1864GlnfsTer24
NM_001142768.2:c.5537_5538dup	NP_001136240.1:p.Thr1847GlnfsTer24
NM_001142769.3:c.4409+3007_4409+3008dup	NP_001136241.1:n.4409+3007_4409+3008dup
NM_001142770.3:c.4373+3007_4373+3008dup	NP_001136242.1:n.4373+3007_4373+3008dup
NM_001142771.2:c.4388+3007_4388+3008dup	NP_001136243.1:n.4388+3007_4388+3008dup
NM_001142772.2:c.4373+3007_4373+3008dup	NP_001136244.1:n.4373+3007_4373+3008dup
NM_001142773.2:c.5528_5529dup	NP_001136245.1:p.Thr1844GlnfsTer24
NM_001354411.2:c.4388+5264_4388+5265dup	NP_001341340.1:n.4388+5264_4388+5265dup
NM_001354420.2:c.4367+5264_4367+5265dup	NP_001341349.1:n.4367+5264_4367+5265dup
NM_001354429.2:c.4368-4116_4368-4115dup	NP_001341358.1:n.4368-4116_4368-4115dup
NM_033056.4:c.5597_5598dup MANE Plus Clinical	NP_149045.3:p.Thr1867GlnfsTer24
NM_001142767.2:c.5477_5478dup	NP_001136239.1:p.Thr1827GlnfsTer24
NM_001354404.2:c.5531_5532dup	NP_001341333.1:p.Thr1845GlnfsTer24
NM_001384140.1:c.4368-1899_4368-1898dup MANE Select	NP_001371069.1:n.4368-1899_4368-1898dup