Canonical Allele Identifier: CA1910742161

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1457298
• ClinVar RCV Id: RCV001953684
• dbSNP Id: rs2076434973

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823319_53823322dup , CM000672.2:g.53823319_53823322dup	GRCh38
NC_000010.10:g.55583079_55583082dup , CM000672.1:g.55583079_55583082dup	GRCh37
NC_000010.9:g.55253085_55253088dup	NCBI36
NG_009191.2:g.982972_982975dup
NG_009191.3:g.1810863_1810866dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1816_4409+1819dup	ENSP00000482794.1:n.4409+1816_4409+1819dup
ENST00000320301.11:c.4406_4409dup MANE Plus Clinical	ENSP00000322604.6:p.Asn1470LysfsTer2
ENST00000395445.6:c.4388+4073_4388+4076dup	ENSP00000378832.2:n.4388+4073_4388+4076dup
ENST00000613657.5:c.4409+1816_4409+1819dup	ENSP00000482794.1:n.4409+1816_4409+1819dup
ENST00000642496.1:c.3227-3090_3227-3087dup
ENST00000644397.2:c.4368-3090_4368-3087dup MANE Select	ENSP00000495195.1:n.4368-3090_4368-3087dup
ENST00000320301.10:c.4406_4409dup	ENSP00000322604.6:p.Asn1470LysfsTer2
ENST00000361849.7:c.4412_4415dup	ENSP00000354950.3:p.Asn1472LysfsTer2
ENST00000373956.7:c.*2361_*2364dup	ENSP00000363067.4:n.*2361_*2364dup
ENST00000373957.7:c.4427_4430dup	ENSP00000363068.4:p.Asn1477LysfsTer2
ENST00000373965.6:c.4373+1816_4373+1819dup	ENSP00000363076.3:n.4373+1816_4373+1819dup
ENST00000395430.5:c.4397_4400dup	ENSP00000378818.1:p.Asn1467LysfsTer2
ENST00000395432.6:c.4286_4289dup	ENSP00000378820.2:p.Asn1430LysfsTer2
ENST00000395433.5:c.4337_4340dup	ENSP00000378821.1:p.Asn1447LysfsTer2
ENST00000395438.5:c.4371+4072_4371+4075dup	ENSP00000378826.2:n.4371+4072_4371+4075dup
ENST00000395440.5:c.1306-13774_1306-13771dup	ENSP00000378827.1:n.1306-13774_1306-13771dup
ENST00000395442.5:c.1099-13774_1099-13771dup	ENSP00000378829.1:n.1099-13774_1099-13771dup
ENST00000395445.5:c.4388+4073_4388+4076dup	ENSP00000378832.2:n.4388+4073_4388+4076dup
ENST00000395446.5:c.2092-13774_2092-13771dup	ENSP00000378833.1:n.2092-13774_2092-13771dup
ENST00000409834.5:c.3206+1816_3206+1819dup	ENSP00000386693.1:n.3206+1816_3206+1819dup
ENST00000414367.5:c.*447+4073_*447+4076dup	ENSP00000412531.1:n.*447+4073_*447+4076dup
ENST00000414778.5:c.4370+4073_4370+4076dup	ENSP00000410304.2:n.4370+4073_4370+4076dup
ENST00000437009.5:c.4199_4202dup	ENSP00000412628.2:p.Asn1401LysfsTer2
ENST00000448885.5:c.*2367_*2370dup	ENSP00000412320.1:n.*2367_*2370dup
ENST00000463095.2:n.1425_1428dup
ENST00000495484.5:c.462-5307_462-5304dup	ENSP00000480780.1:n.462-5307_462-5304dup
ENST00000612394.4:c.4406+4073_4406+4076dup	ENSP00000482921.1:n.4406+4073_4406+4076dup
ENST00000613657.4:c.4409+1816_4409+1819dup	ENSP00000482794.1:n.4409+1816_4409+1819dup
ENST00000614895.4:c.4385+4073_4385+4076dup	ENSP00000478512.1:n.4385+4073_4385+4076dup
ENST00000616114.4:c.4367+4073_4367+4076dup	ENSP00000483745.1:n.4367+4073_4367+4076dup
ENST00000617051.4:c.4433_4436dup	ENSP00000484703.1:p.Asn1479LysfsTer2
ENST00000617271.4:c.4373+1816_4373+1819dup	ENSP00000478076.1:n.4373+1816_4373+1819dup
ENST00000618301.4:c.593+4073_593+4076dup	ENSP00000482780.1:n.593+4073_593+4076dup
ENST00000621708.4:c.4388+1816_4388+1819dup	ENSP00000484454.1:n.4388+1816_4388+1819dup
ENST00000622048.4:c.4205_4208dup	ENSP00000482329.1:p.Asn1403LysfsTer2
NM_001142763.1:c.4427_4430dup	NP_001136235.1:p.Asn1477LysfsTer2
NM_001142764.1:c.4412_4415dup	NP_001136236.1:p.Asn1472LysfsTer2
NM_001142765.1:c.4199_4202dup	NP_001136237.1:p.Asn1401LysfsTer2
NM_001142766.1:c.4397_4400dup	NP_001136238.1:p.Asn1467LysfsTer2
NM_001142767.1:c.4286_4289dup	NP_001136239.1:p.Asn1430LysfsTer2
NM_001142768.1:c.4346_4349dup	NP_001136240.1:p.Asn1450LysfsTer2
NM_001142769.1:c.4409+1816_4409+1819dup	NP_001136241.1:n.4409+1816_4409+1819dup
NM_001142770.1:c.4373+1816_4373+1819dup	NP_001136242.1:n.4373+1816_4373+1819dup
NM_001142771.1:c.4388+1816_4388+1819dup	NP_001136243.1:n.4388+1816_4388+1819dup
NM_001142772.1:c.4373+1816_4373+1819dup	NP_001136244.1:n.4373+1816_4373+1819dup
NM_001142773.1:c.4337_4340dup	NP_001136245.1:p.Asn1447LysfsTer2
NM_033056.3:c.4406_4409dup	NP_149045.3:p.Asn1470LysfsTer2
NM_001142769.2:c.4409+1816_4409+1819dup	NP_001136241.1:n.4409+1816_4409+1819dup
NM_001142770.2:c.4373+1816_4373+1819dup	NP_001136242.1:n.4373+1816_4373+1819dup
NM_001354404.1:c.4340_4343dup	NP_001341333.1:p.Asn1448LysfsTer2
NM_001354411.1:c.4388+4073_4388+4076dup	NP_001341340.1:n.4388+4073_4388+4076dup
NM_001354420.1:c.4367+4073_4367+4076dup	NP_001341349.1:n.4367+4073_4367+4076dup
NM_001354429.1:c.4367+4073_4367+4076dup	NP_001341358.1:n.4367+4073_4367+4076dup
XM_017016573.2:c.4388+1816_4388+1819dup	XP_016872062.1:n.4388+1816_4388+1819dup
XR_001747192.2:n.5419_5422dup
XR_001747193.2:n.5410_5413dup
NM_001142763.2:c.4427_4430dup	NP_001136235.1:p.Asn1477LysfsTer2
NM_001142764.2:c.4412_4415dup	NP_001136236.1:p.Asn1472LysfsTer2
NM_001142765.2:c.4199_4202dup	NP_001136237.1:p.Asn1401LysfsTer2
NM_001142766.2:c.4397_4400dup	NP_001136238.1:p.Asn1467LysfsTer2
NM_001142768.2:c.4346_4349dup	NP_001136240.1:p.Asn1450LysfsTer2
NM_001142769.3:c.4409+1816_4409+1819dup	NP_001136241.1:n.4409+1816_4409+1819dup
NM_001142770.3:c.4373+1816_4373+1819dup	NP_001136242.1:n.4373+1816_4373+1819dup
NM_001142771.2:c.4388+1816_4388+1819dup	NP_001136243.1:n.4388+1816_4388+1819dup
NM_001142772.2:c.4373+1816_4373+1819dup	NP_001136244.1:n.4373+1816_4373+1819dup
NM_001142773.2:c.4337_4340dup	NP_001136245.1:p.Asn1447LysfsTer2
NM_001354411.2:c.4388+4073_4388+4076dup	NP_001341340.1:n.4388+4073_4388+4076dup
NM_001354420.2:c.4367+4073_4367+4076dup	NP_001341349.1:n.4367+4073_4367+4076dup
NM_001354429.2:c.4367+4073_4367+4076dup	NP_001341358.1:n.4367+4073_4367+4076dup
NM_033056.4:c.4406_4409dup MANE Plus Clinical	NP_149045.3:p.Asn1470LysfsTer2
NM_001142767.2:c.4286_4289dup	NP_001136239.1:p.Asn1430LysfsTer2
NM_001354404.2:c.4340_4343dup	NP_001341333.1:p.Asn1448LysfsTer2
NM_001384140.1:c.4368-3090_4368-3087dup MANE Select	NP_001371069.1:n.4368-3090_4368-3087dup