Canonical Allele Identifier: CA2580081671

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 2039094
• ClinVar RCV Id: RCV002899630

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823157_53823215del , CM000672.2:g.53823157_53823215del	GRCh38
NC_000010.10:g.55582917_55582975del , CM000672.1:g.55582917_55582975del	GRCh37
NC_000010.9:g.55252923_55252981del	NCBI36
NG_009191.2:g.983079_983137del
NG_009191.3:g.1810970_1811028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1923_4409+1981del	ENSP00000482794.1:n.4409+1923_4409+1981del
ENST00000320301.11:c.4513_4571del MANE Plus Clinical	ENSP00000322604.6:p.Asn1505ProfsTer2
ENST00000395445.6:c.4388+4180_4388+4238del	ENSP00000378832.2:n.4388+4180_4388+4238del
ENST00000613657.5:c.4409+1923_4409+1981del	ENSP00000482794.1:n.4409+1923_4409+1981del
ENST00000642496.1:c.3227-2983_3227-2925del
ENST00000644397.2:c.4368-2983_4368-2925del MANE Select	ENSP00000495195.1:n.4368-2983_4368-2925del
ENST00000320301.10:c.4513_4571del	ENSP00000322604.6:p.Asn1505ProfsTer2
ENST00000361849.7:c.4519_4577del	ENSP00000354950.3:p.Asn1507ProfsTer2
ENST00000373956.7:c.*2468_*2526del	ENSP00000363067.4:n.*2468_*2526del
ENST00000373957.7:c.4534_4592del	ENSP00000363068.4:p.Asn1512ProfsTer2
ENST00000373965.6:c.4373+1923_4373+1981del	ENSP00000363076.3:n.4373+1923_4373+1981del
ENST00000395430.5:c.4504_4562del	ENSP00000378818.1:p.Asn1502ProfsTer2
ENST00000395432.6:c.4393_4451del	ENSP00000378820.2:p.Asn1465ProfsTer2
ENST00000395433.5:c.4444_4502del	ENSP00000378821.1:p.Asn1482ProfsTer2
ENST00000395438.5:c.4371+4179_4371+4237del	ENSP00000378826.2:n.4371+4179_4371+4237del
ENST00000395440.5:c.1306-13667_1306-13609del	ENSP00000378827.1:n.1306-13667_1306-13609del
ENST00000395442.5:c.1099-13667_1099-13609del	ENSP00000378829.1:n.1099-13667_1099-13609del
ENST00000395445.5:c.4388+4180_4388+4238del	ENSP00000378832.2:n.4388+4180_4388+4238del
ENST00000395446.5:c.2092-13667_2092-13609del	ENSP00000378833.1:n.2092-13667_2092-13609del
ENST00000409834.5:c.3206+1923_3206+1981del	ENSP00000386693.1:n.3206+1923_3206+1981del
ENST00000414367.5:c.*447+4180_*447+4238del	ENSP00000412531.1:n.*447+4180_*447+4238del
ENST00000414778.5:c.4370+4180_4370+4238del	ENSP00000410304.2:n.4370+4180_4370+4238del
ENST00000437009.5:c.4306_4364del	ENSP00000412628.2:p.Asn1436ProfsTer2
ENST00000448885.5:c.*2474_*2532del	ENSP00000412320.1:n.*2474_*2532del
ENST00000463095.2:n.1532_1590del
ENST00000495484.5:c.462-5200_462-5142del	ENSP00000480780.1:n.462-5200_462-5142del
ENST00000612394.4:c.4406+4180_4406+4238del	ENSP00000482921.1:n.4406+4180_4406+4238del
ENST00000613657.4:c.4409+1923_4409+1981del	ENSP00000482794.1:n.4409+1923_4409+1981del
ENST00000614895.4:c.4385+4180_4385+4238del	ENSP00000478512.1:n.4385+4180_4385+4238del
ENST00000616114.4:c.4367+4180_4367+4238del	ENSP00000483745.1:n.4367+4180_4367+4238del
ENST00000617051.4:c.4540_4598del	ENSP00000484703.1:p.Asn1514ProfsTer2
ENST00000617271.4:c.4373+1923_4373+1981del	ENSP00000478076.1:n.4373+1923_4373+1981del
ENST00000618301.4:c.593+4180_593+4238del	ENSP00000482780.1:n.593+4180_593+4238del
ENST00000621708.4:c.4388+1923_4388+1981del	ENSP00000484454.1:n.4388+1923_4388+1981del
ENST00000622048.4:c.4312_4370del	ENSP00000482329.1:p.Asn1438ProfsTer2
NM_001142763.1:c.4534_4592del	NP_001136235.1:p.Asn1512ProfsTer2
NM_001142764.1:c.4519_4577del	NP_001136236.1:p.Asn1507ProfsTer2
NM_001142765.1:c.4306_4364del	NP_001136237.1:p.Asn1436ProfsTer2
NM_001142766.1:c.4504_4562del	NP_001136238.1:p.Asn1502ProfsTer2
NM_001142767.1:c.4393_4451del	NP_001136239.1:p.Asn1465ProfsTer2
NM_001142768.1:c.4453_4511del	NP_001136240.1:p.Asn1485ProfsTer2
NM_001142769.1:c.4409+1923_4409+1981del	NP_001136241.1:n.4409+1923_4409+1981del
NM_001142770.1:c.4373+1923_4373+1981del	NP_001136242.1:n.4373+1923_4373+1981del
NM_001142771.1:c.4388+1923_4388+1981del	NP_001136243.1:n.4388+1923_4388+1981del
NM_001142772.1:c.4373+1923_4373+1981del	NP_001136244.1:n.4373+1923_4373+1981del
NM_001142773.1:c.4444_4502del	NP_001136245.1:p.Asn1482ProfsTer2
NM_033056.3:c.4513_4571del	NP_149045.3:p.Asn1505ProfsTer2
NM_001142769.2:c.4409+1923_4409+1981del	NP_001136241.1:n.4409+1923_4409+1981del
NM_001142770.2:c.4373+1923_4373+1981del	NP_001136242.1:n.4373+1923_4373+1981del
NM_001354404.1:c.4447_4505del	NP_001341333.1:p.Asn1483ProfsTer2
NM_001354411.1:c.4388+4180_4388+4238del	NP_001341340.1:n.4388+4180_4388+4238del
NM_001354420.1:c.4367+4180_4367+4238del	NP_001341349.1:n.4367+4180_4367+4238del
NM_001354429.1:c.4367+4180_4367+4238del	NP_001341358.1:n.4367+4180_4367+4238del
XM_017016573.2:c.4388+1923_4388+1981del	XP_016872062.1:n.4388+1923_4388+1981del
XR_001747192.2:n.5526_5584del
XR_001747193.2:n.5517_5575del
NM_001142763.2:c.4534_4592del	NP_001136235.1:p.Asn1512ProfsTer2
NM_001142764.2:c.4519_4577del	NP_001136236.1:p.Asn1507ProfsTer2
NM_001142765.2:c.4306_4364del	NP_001136237.1:p.Asn1436ProfsTer2
NM_001142766.2:c.4504_4562del	NP_001136238.1:p.Asn1502ProfsTer2
NM_001142768.2:c.4453_4511del	NP_001136240.1:p.Asn1485ProfsTer2
NM_001142769.3:c.4409+1923_4409+1981del	NP_001136241.1:n.4409+1923_4409+1981del
NM_001142770.3:c.4373+1923_4373+1981del	NP_001136242.1:n.4373+1923_4373+1981del
NM_001142771.2:c.4388+1923_4388+1981del	NP_001136243.1:n.4388+1923_4388+1981del
NM_001142772.2:c.4373+1923_4373+1981del	NP_001136244.1:n.4373+1923_4373+1981del
NM_001142773.2:c.4444_4502del	NP_001136245.1:p.Asn1482ProfsTer2
NM_001354411.2:c.4388+4180_4388+4238del	NP_001341340.1:n.4388+4180_4388+4238del
NM_001354420.2:c.4367+4180_4367+4238del	NP_001341349.1:n.4367+4180_4367+4238del
NM_001354429.2:c.4367+4180_4367+4238del	NP_001341358.1:n.4367+4180_4367+4238del
NM_033056.4:c.4513_4571del MANE Plus Clinical	NP_149045.3:p.Asn1505ProfsTer2
NM_001142767.2:c.4393_4451del	NP_001136239.1:p.Asn1465ProfsTer2
NM_001354404.2:c.4447_4505del	NP_001341333.1:p.Asn1483ProfsTer2
NM_001384140.1:c.4368-2983_4368-2925del MANE Select	NP_001371069.1:n.4368-2983_4368-2925del