Canonical Allele Identifier: CA2739265386

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 2859328
• ClinVar RCV Id: RCV003701795

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823274_53823289dup , CM000672.2:g.53823274_53823289dup	GRCh38
NC_000010.10:g.55583034_55583049dup , CM000672.1:g.55583034_55583049dup	GRCh37
NC_000010.9:g.55253040_55253055dup	NCBI36
NG_009191.2:g.983003_983018dup
NG_009191.3:g.1810894_1810909dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+1847_4409+1862dup	ENSP00000482794.1:n.4409+1847_4409+1862dup
ENST00000320301.11:c.4437_4452dup MANE Plus Clinical	ENSP00000322604.6:p.Phe1485ThrfsTer12
ENST00000395445.6:c.4388+4104_4388+4119dup	ENSP00000378832.2:n.4388+4104_4388+4119dup
ENST00000613657.5:c.4409+1847_4409+1862dup	ENSP00000482794.1:n.4409+1847_4409+1862dup
ENST00000642496.1:c.3227-3059_3227-3044dup
ENST00000644397.2:c.4368-3059_4368-3044dup MANE Select	ENSP00000495195.1:n.4368-3059_4368-3044dup
ENST00000320301.10:c.4437_4452dup	ENSP00000322604.6:p.Phe1485ThrfsTer12
ENST00000361849.7:c.4443_4458dup	ENSP00000354950.3:p.Phe1487ThrfsTer12
ENST00000373956.7:c.*2392_*2407dup	ENSP00000363067.4:n.*2392_*2407dup
ENST00000373957.7:c.4458_4473dup	ENSP00000363068.4:p.Phe1492ThrfsTer12
ENST00000373965.6:c.4373+1847_4373+1862dup	ENSP00000363076.3:n.4373+1847_4373+1862dup
ENST00000395430.5:c.4428_4443dup	ENSP00000378818.1:p.Phe1482ThrfsTer12
ENST00000395432.6:c.4317_4332dup	ENSP00000378820.2:p.Phe1445ThrfsTer12
ENST00000395433.5:c.4368_4383dup	ENSP00000378821.1:p.Phe1462ThrfsTer12
ENST00000395438.5:c.4371+4103_4371+4118dup	ENSP00000378826.2:n.4371+4103_4371+4118dup
ENST00000395440.5:c.1306-13743_1306-13728dup	ENSP00000378827.1:n.1306-13743_1306-13728dup
ENST00000395442.5:c.1099-13743_1099-13728dup	ENSP00000378829.1:n.1099-13743_1099-13728dup
ENST00000395445.5:c.4388+4104_4388+4119dup	ENSP00000378832.2:n.4388+4104_4388+4119dup
ENST00000395446.5:c.2092-13743_2092-13728dup	ENSP00000378833.1:n.2092-13743_2092-13728dup
ENST00000409834.5:c.3206+1847_3206+1862dup	ENSP00000386693.1:n.3206+1847_3206+1862dup
ENST00000414367.5:c.*447+4104_*447+4119dup	ENSP00000412531.1:n.*447+4104_*447+4119dup
ENST00000414778.5:c.4370+4104_4370+4119dup	ENSP00000410304.2:n.4370+4104_4370+4119dup
ENST00000437009.5:c.4230_4245dup	ENSP00000412628.2:p.Phe1416ThrfsTer12
ENST00000448885.5:c.*2398_*2413dup	ENSP00000412320.1:n.*2398_*2413dup
ENST00000463095.2:n.1456_1471dup
ENST00000495484.5:c.462-5276_462-5261dup	ENSP00000480780.1:n.462-5276_462-5261dup
ENST00000612394.4:c.4406+4104_4406+4119dup	ENSP00000482921.1:n.4406+4104_4406+4119dup
ENST00000613657.4:c.4409+1847_4409+1862dup	ENSP00000482794.1:n.4409+1847_4409+1862dup
ENST00000614895.4:c.4385+4104_4385+4119dup	ENSP00000478512.1:n.4385+4104_4385+4119dup
ENST00000616114.4:c.4367+4104_4367+4119dup	ENSP00000483745.1:n.4367+4104_4367+4119dup
ENST00000617051.4:c.4464_4479dup	ENSP00000484703.1:p.Phe1494ThrfsTer12
ENST00000617271.4:c.4373+1847_4373+1862dup	ENSP00000478076.1:n.4373+1847_4373+1862dup
ENST00000618301.4:c.593+4104_593+4119dup	ENSP00000482780.1:n.593+4104_593+4119dup
ENST00000621708.4:c.4388+1847_4388+1862dup	ENSP00000484454.1:n.4388+1847_4388+1862dup
ENST00000622048.4:c.4236_4251dup	ENSP00000482329.1:p.Phe1418ThrfsTer12
NM_001142763.1:c.4458_4473dup	NP_001136235.1:p.Phe1492ThrfsTer12
NM_001142764.1:c.4443_4458dup	NP_001136236.1:p.Phe1487ThrfsTer12
NM_001142765.1:c.4230_4245dup	NP_001136237.1:p.Phe1416ThrfsTer12
NM_001142766.1:c.4428_4443dup	NP_001136238.1:p.Phe1482ThrfsTer12
NM_001142767.1:c.4317_4332dup	NP_001136239.1:p.Phe1445ThrfsTer12
NM_001142768.1:c.4377_4392dup	NP_001136240.1:p.Phe1465ThrfsTer12
NM_001142769.1:c.4409+1847_4409+1862dup	NP_001136241.1:n.4409+1847_4409+1862dup
NM_001142770.1:c.4373+1847_4373+1862dup	NP_001136242.1:n.4373+1847_4373+1862dup
NM_001142771.1:c.4388+1847_4388+1862dup	NP_001136243.1:n.4388+1847_4388+1862dup
NM_001142772.1:c.4373+1847_4373+1862dup	NP_001136244.1:n.4373+1847_4373+1862dup
NM_001142773.1:c.4368_4383dup	NP_001136245.1:p.Phe1462ThrfsTer12
NM_033056.3:c.4437_4452dup	NP_149045.3:p.Phe1485ThrfsTer12
NM_001142769.2:c.4409+1847_4409+1862dup	NP_001136241.1:n.4409+1847_4409+1862dup
NM_001142770.2:c.4373+1847_4373+1862dup	NP_001136242.1:n.4373+1847_4373+1862dup
NM_001354404.1:c.4371_4386dup	NP_001341333.1:p.Phe1463ThrfsTer12
NM_001354411.1:c.4388+4104_4388+4119dup	NP_001341340.1:n.4388+4104_4388+4119dup
NM_001354420.1:c.4367+4104_4367+4119dup	NP_001341349.1:n.4367+4104_4367+4119dup
NM_001354429.1:c.4367+4104_4367+4119dup	NP_001341358.1:n.4367+4104_4367+4119dup
XM_017016573.2:c.4388+1847_4388+1862dup	XP_016872062.1:n.4388+1847_4388+1862dup
XR_001747192.2:n.5450_5465dup
XR_001747193.2:n.5441_5456dup
NM_001142763.2:c.4458_4473dup	NP_001136235.1:p.Phe1492ThrfsTer12
NM_001142764.2:c.4443_4458dup	NP_001136236.1:p.Phe1487ThrfsTer12
NM_001142765.2:c.4230_4245dup	NP_001136237.1:p.Phe1416ThrfsTer12
NM_001142766.2:c.4428_4443dup	NP_001136238.1:p.Phe1482ThrfsTer12
NM_001142768.2:c.4377_4392dup	NP_001136240.1:p.Phe1465ThrfsTer12
NM_001142769.3:c.4409+1847_4409+1862dup	NP_001136241.1:n.4409+1847_4409+1862dup
NM_001142770.3:c.4373+1847_4373+1862dup	NP_001136242.1:n.4373+1847_4373+1862dup
NM_001142771.2:c.4388+1847_4388+1862dup	NP_001136243.1:n.4388+1847_4388+1862dup
NM_001142772.2:c.4373+1847_4373+1862dup	NP_001136244.1:n.4373+1847_4373+1862dup
NM_001142773.2:c.4368_4383dup	NP_001136245.1:p.Phe1462ThrfsTer12
NM_001354411.2:c.4388+4104_4388+4119dup	NP_001341340.1:n.4388+4104_4388+4119dup
NM_001354420.2:c.4367+4104_4367+4119dup	NP_001341349.1:n.4367+4104_4367+4119dup
NM_001354429.2:c.4367+4104_4367+4119dup	NP_001341358.1:n.4367+4104_4367+4119dup
NM_033056.4:c.4437_4452dup MANE Plus Clinical	NP_149045.3:p.Phe1485ThrfsTer12
NM_001142767.2:c.4317_4332dup	NP_001136239.1:p.Phe1445ThrfsTer12
NM_001354404.2:c.4371_4386dup	NP_001341333.1:p.Phe1463ThrfsTer12
NM_001384140.1:c.4368-3059_4368-3044dup MANE Select	NP_001371069.1:n.4368-3059_4368-3044dup