Canonical Allele Identifier: CA1910742813

Gene: PCDH15

Linked Data

• dbSNP Id: rs2076459309

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823543_53823546dup , CM000672.2:g.53823543_53823546dup	GRCh38
NC_000010.10:g.55583303_55583306dup , CM000672.1:g.55583303_55583306dup	GRCh37
NC_000010.9:g.55253309_55253312dup	NCBI36
NG_009191.2:g.982746_982749dup
NG_009191.3:g.1810637_1810640dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1590_4409+1593dup	ENSP00000482794.1:n.4409+1590_4409+1593dup
ENST00000320301.11:c.4368-188_4368-185dup MANE Plus Clinical	ENSP00000322604.6:n.4368-188_4368-185dup
ENST00000395445.6:c.4388+3847_4388+3850dup	ENSP00000378832.2:n.4388+3847_4388+3850dup
ENST00000613657.5:c.4409+1590_4409+1593dup	ENSP00000482794.1:n.4409+1590_4409+1593dup
ENST00000642496.1:c.3227-3316_3227-3313dup
ENST00000644397.2:c.4368-3316_4368-3313dup MANE Select	ENSP00000495195.1:n.4368-3316_4368-3313dup
ENST00000320301.10:c.4368-188_4368-185dup	ENSP00000322604.6:n.4368-188_4368-185dup
ENST00000361849.7:c.4374-188_4374-185dup	ENSP00000354950.3:n.4374-188_4374-185dup
ENST00000373956.7:c.*2323-188_*2323-185dup	ENSP00000363067.4:n.*2323-188_*2323-185dup
ENST00000373957.7:c.4389-188_4389-185dup	ENSP00000363068.4:n.4389-188_4389-185dup
ENST00000373965.6:c.4373+1590_4373+1593dup	ENSP00000363076.3:n.4373+1590_4373+1593dup
ENST00000395430.5:c.4359-188_4359-185dup	ENSP00000378818.1:n.4359-188_4359-185dup
ENST00000395432.6:c.4248-188_4248-185dup	ENSP00000378820.2:n.4248-188_4248-185dup
ENST00000395433.5:c.4299-188_4299-185dup	ENSP00000378821.1:n.4299-188_4299-185dup
ENST00000395438.5:c.4371+3846_4371+3849dup	ENSP00000378826.2:n.4371+3846_4371+3849dup
ENST00000395440.5:c.1306-14000_1306-13997dup	ENSP00000378827.1:n.1306-14000_1306-13997dup
ENST00000395442.5:c.1099-14000_1099-13997dup	ENSP00000378829.1:n.1099-14000_1099-13997dup
ENST00000395445.5:c.4388+3847_4388+3850dup	ENSP00000378832.2:n.4388+3847_4388+3850dup
ENST00000395446.5:c.2092-14000_2092-13997dup	ENSP00000378833.1:n.2092-14000_2092-13997dup
ENST00000409834.5:c.3206+1590_3206+1593dup	ENSP00000386693.1:n.3206+1590_3206+1593dup
ENST00000414367.5:c.*447+3847_*447+3850dup	ENSP00000412531.1:n.*447+3847_*447+3850dup
ENST00000414778.5:c.4370+3847_4370+3850dup	ENSP00000410304.2:n.4370+3847_4370+3850dup
ENST00000437009.5:c.4161-188_4161-185dup	ENSP00000412628.2:n.4161-188_4161-185dup
ENST00000448885.5:c.*2329-188_*2329-185dup	ENSP00000412320.1:n.*2329-188_*2329-185dup
ENST00000463095.2:n.1387-188_1387-185dup
ENST00000495484.5:c.462-5533_462-5530dup	ENSP00000480780.1:n.462-5533_462-5530dup
ENST00000612394.4:c.4406+3847_4406+3850dup	ENSP00000482921.1:n.4406+3847_4406+3850dup
ENST00000613657.4:c.4409+1590_4409+1593dup	ENSP00000482794.1:n.4409+1590_4409+1593dup
ENST00000614895.4:c.4385+3847_4385+3850dup	ENSP00000478512.1:n.4385+3847_4385+3850dup
ENST00000616114.4:c.4367+3847_4367+3850dup	ENSP00000483745.1:n.4367+3847_4367+3850dup
ENST00000617051.4:c.4386-179_4386-176dup	ENSP00000484703.1:n.4386-179_4386-176dup
ENST00000617271.4:c.4373+1590_4373+1593dup	ENSP00000478076.1:n.4373+1590_4373+1593dup
ENST00000618301.4:c.593+3847_593+3850dup	ENSP00000482780.1:n.593+3847_593+3850dup
ENST00000621708.4:c.4388+1590_4388+1593dup	ENSP00000484454.1:n.4388+1590_4388+1593dup
ENST00000622048.4:c.4158-179_4158-176dup	ENSP00000482329.1:n.4158-179_4158-176dup
NM_001142763.1:c.4389-188_4389-185dup	NP_001136235.1:n.4389-188_4389-185dup
NM_001142764.1:c.4374-188_4374-185dup	NP_001136236.1:n.4374-188_4374-185dup
NM_001142765.1:c.4161-188_4161-185dup	NP_001136237.1:n.4161-188_4161-185dup
NM_001142766.1:c.4359-188_4359-185dup	NP_001136238.1:n.4359-188_4359-185dup
NM_001142767.1:c.4248-188_4248-185dup	NP_001136239.1:n.4248-188_4248-185dup
NM_001142768.1:c.4308-188_4308-185dup	NP_001136240.1:n.4308-188_4308-185dup
NM_001142769.1:c.4409+1590_4409+1593dup	NP_001136241.1:n.4409+1590_4409+1593dup
NM_001142770.1:c.4373+1590_4373+1593dup	NP_001136242.1:n.4373+1590_4373+1593dup
NM_001142771.1:c.4388+1590_4388+1593dup	NP_001136243.1:n.4388+1590_4388+1593dup
NM_001142772.1:c.4373+1590_4373+1593dup	NP_001136244.1:n.4373+1590_4373+1593dup
NM_001142773.1:c.4299-188_4299-185dup	NP_001136245.1:n.4299-188_4299-185dup
NM_033056.3:c.4368-188_4368-185dup	NP_149045.3:n.4368-188_4368-185dup
NM_001142769.2:c.4409+1590_4409+1593dup	NP_001136241.1:n.4409+1590_4409+1593dup
NM_001142770.2:c.4373+1590_4373+1593dup	NP_001136242.1:n.4373+1590_4373+1593dup
NM_001354404.1:c.4302-188_4302-185dup	NP_001341333.1:n.4302-188_4302-185dup
NM_001354411.1:c.4388+3847_4388+3850dup	NP_001341340.1:n.4388+3847_4388+3850dup
NM_001354420.1:c.4367+3847_4367+3850dup	NP_001341349.1:n.4367+3847_4367+3850dup
NM_001354429.1:c.4367+3847_4367+3850dup	NP_001341358.1:n.4367+3847_4367+3850dup
XM_017016573.2:c.4388+1590_4388+1593dup	XP_016872062.1:n.4388+1590_4388+1593dup
XR_001747192.2:n.5381-188_5381-185dup
XR_001747193.2:n.5372-188_5372-185dup
NM_001142763.2:c.4389-188_4389-185dup	NP_001136235.1:n.4389-188_4389-185dup
NM_001142764.2:c.4374-188_4374-185dup	NP_001136236.1:n.4374-188_4374-185dup
NM_001142765.2:c.4161-188_4161-185dup	NP_001136237.1:n.4161-188_4161-185dup
NM_001142766.2:c.4359-188_4359-185dup	NP_001136238.1:n.4359-188_4359-185dup
NM_001142768.2:c.4308-188_4308-185dup	NP_001136240.1:n.4308-188_4308-185dup
NM_001142769.3:c.4409+1590_4409+1593dup	NP_001136241.1:n.4409+1590_4409+1593dup
NM_001142770.3:c.4373+1590_4373+1593dup	NP_001136242.1:n.4373+1590_4373+1593dup
NM_001142771.2:c.4388+1590_4388+1593dup	NP_001136243.1:n.4388+1590_4388+1593dup
NM_001142772.2:c.4373+1590_4373+1593dup	NP_001136244.1:n.4373+1590_4373+1593dup
NM_001142773.2:c.4299-188_4299-185dup	NP_001136245.1:n.4299-188_4299-185dup
NM_001354411.2:c.4388+3847_4388+3850dup	NP_001341340.1:n.4388+3847_4388+3850dup
NM_001354420.2:c.4367+3847_4367+3850dup	NP_001341349.1:n.4367+3847_4367+3850dup
NM_001354429.2:c.4367+3847_4367+3850dup	NP_001341358.1:n.4367+3847_4367+3850dup
NM_033056.4:c.4368-188_4368-185dup MANE Plus Clinical	NP_149045.3:n.4368-188_4368-185dup
NM_001142767.2:c.4248-188_4248-185dup	NP_001136239.1:n.4248-188_4248-185dup
NM_001354404.2:c.4302-188_4302-185dup	NP_001341333.1:n.4302-188_4302-185dup
NM_001384140.1:c.4368-3316_4368-3313dup MANE Select	NP_001371069.1:n.4368-3316_4368-3313dup