Canonical Allele Identifier: CA593500436

Gene: PCDH15

Linked Data

• dbSNP Id: rs1460676591
• gnomAD v2: 10-55583581-TCTC-T
• gnomAD v3: 10-53823821-TCTC-T
• gnomAD v4: 10-53823821-TCTC-T
• MyVariant Identifiers: chr10:g.55583582_55583584del (hg19) ; chr10:g.53823822_53823824del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823825_53823827del , CM000672.2:g.53823825_53823827del	GRCh38
NC_000010.10:g.55583585_55583587del , CM000672.1:g.55583585_55583587del	GRCh37
NC_000010.9:g.55253591_55253593del	NCBI36
NG_009191.2:g.982468_982470del
NG_009191.3:g.1810359_1810361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1312_4409+1314del	ENSP00000482794.1:n.4409+1312_4409+1314del
ENST00000320301.11:c.4368-466_4368-464del MANE Plus Clinical	ENSP00000322604.6:n.4368-466_4368-464del
ENST00000395445.6:c.4388+3569_4388+3571del	ENSP00000378832.2:n.4388+3569_4388+3571del
ENST00000613657.5:c.4409+1312_4409+1314del	ENSP00000482794.1:n.4409+1312_4409+1314del
ENST00000642496.1:c.3226+3569_3226+3571del
ENST00000644397.2:c.4367+3569_4367+3571del MANE Select	ENSP00000495195.1:n.4367+3569_4367+3571del
ENST00000320301.10:c.4368-466_4368-464del	ENSP00000322604.6:n.4368-466_4368-464del
ENST00000361849.7:c.4374-466_4374-464del	ENSP00000354950.3:n.4374-466_4374-464del
ENST00000373956.7:c.*2323-466_*2323-464del	ENSP00000363067.4:n.*2323-466_*2323-464del
ENST00000373957.7:c.4389-466_4389-464del	ENSP00000363068.4:n.4389-466_4389-464del
ENST00000373965.6:c.4373+1312_4373+1314del	ENSP00000363076.3:n.4373+1312_4373+1314del
ENST00000395430.5:c.4359-466_4359-464del	ENSP00000378818.1:n.4359-466_4359-464del
ENST00000395432.6:c.4248-466_4248-464del	ENSP00000378820.2:n.4248-466_4248-464del
ENST00000395433.5:c.4299-466_4299-464del	ENSP00000378821.1:n.4299-466_4299-464del
ENST00000395438.5:c.4371+3568_4371+3570del	ENSP00000378826.2:n.4371+3568_4371+3570del
ENST00000395440.5:c.1306-14278_1306-14276del	ENSP00000378827.1:n.1306-14278_1306-14276del
ENST00000395442.5:c.1099-14278_1099-14276del	ENSP00000378829.1:n.1099-14278_1099-14276del
ENST00000395445.5:c.4388+3569_4388+3571del	ENSP00000378832.2:n.4388+3569_4388+3571del
ENST00000395446.5:c.2092-14278_2092-14276del	ENSP00000378833.1:n.2092-14278_2092-14276del
ENST00000409834.5:c.3206+1312_3206+1314del	ENSP00000386693.1:n.3206+1312_3206+1314del
ENST00000414367.5:c.*447+3569_*447+3571del	ENSP00000412531.1:n.*447+3569_*447+3571del
ENST00000414778.5:c.4370+3569_4370+3571del	ENSP00000410304.2:n.4370+3569_4370+3571del
ENST00000437009.5:c.4161-466_4161-464del	ENSP00000412628.2:n.4161-466_4161-464del
ENST00000448885.5:c.*2329-466_*2329-464del	ENSP00000412320.1:n.*2329-466_*2329-464del
ENST00000463095.2:n.1387-466_1387-464del
ENST00000495484.5:c.462-5811_462-5809del	ENSP00000480780.1:n.462-5811_462-5809del
ENST00000612394.4:c.4406+3569_4406+3571del	ENSP00000482921.1:n.4406+3569_4406+3571del
ENST00000613657.4:c.4409+1312_4409+1314del	ENSP00000482794.1:n.4409+1312_4409+1314del
ENST00000614895.4:c.4385+3569_4385+3571del	ENSP00000478512.1:n.4385+3569_4385+3571del
ENST00000616114.4:c.4367+3569_4367+3571del	ENSP00000483745.1:n.4367+3569_4367+3571del
ENST00000617051.4:c.4386-457_4386-455del	ENSP00000484703.1:n.4386-457_4386-455del
ENST00000617271.4:c.4373+1312_4373+1314del	ENSP00000478076.1:n.4373+1312_4373+1314del
ENST00000618301.4:c.593+3569_593+3571del	ENSP00000482780.1:n.593+3569_593+3571del
ENST00000621708.4:c.4388+1312_4388+1314del	ENSP00000484454.1:n.4388+1312_4388+1314del
ENST00000622048.4:c.4158-457_4158-455del	ENSP00000482329.1:n.4158-457_4158-455del
NM_001142763.1:c.4389-466_4389-464del	NP_001136235.1:n.4389-466_4389-464del
NM_001142764.1:c.4374-466_4374-464del	NP_001136236.1:n.4374-466_4374-464del
NM_001142765.1:c.4161-466_4161-464del	NP_001136237.1:n.4161-466_4161-464del
NM_001142766.1:c.4359-466_4359-464del	NP_001136238.1:n.4359-466_4359-464del
NM_001142767.1:c.4248-466_4248-464del	NP_001136239.1:n.4248-466_4248-464del
NM_001142768.1:c.4308-466_4308-464del	NP_001136240.1:n.4308-466_4308-464del
NM_001142769.1:c.4409+1312_4409+1314del	NP_001136241.1:n.4409+1312_4409+1314del
NM_001142770.1:c.4373+1312_4373+1314del	NP_001136242.1:n.4373+1312_4373+1314del
NM_001142771.1:c.4388+1312_4388+1314del	NP_001136243.1:n.4388+1312_4388+1314del
NM_001142772.1:c.4373+1312_4373+1314del	NP_001136244.1:n.4373+1312_4373+1314del
NM_001142773.1:c.4299-466_4299-464del	NP_001136245.1:n.4299-466_4299-464del
NM_033056.3:c.4368-466_4368-464del	NP_149045.3:n.4368-466_4368-464del
NM_001142769.2:c.4409+1312_4409+1314del	NP_001136241.1:n.4409+1312_4409+1314del
NM_001142770.2:c.4373+1312_4373+1314del	NP_001136242.1:n.4373+1312_4373+1314del
NM_001354404.1:c.4302-466_4302-464del	NP_001341333.1:n.4302-466_4302-464del
NM_001354411.1:c.4388+3569_4388+3571del	NP_001341340.1:n.4388+3569_4388+3571del
NM_001354420.1:c.4367+3569_4367+3571del	NP_001341349.1:n.4367+3569_4367+3571del
NM_001354429.1:c.4367+3569_4367+3571del	NP_001341358.1:n.4367+3569_4367+3571del
XM_017016573.2:c.4388+1312_4388+1314del	XP_016872062.1:n.4388+1312_4388+1314del
XR_001747192.2:n.5381-466_5381-464del
XR_001747193.2:n.5372-466_5372-464del
NM_001142763.2:c.4389-466_4389-464del	NP_001136235.1:n.4389-466_4389-464del
NM_001142764.2:c.4374-466_4374-464del	NP_001136236.1:n.4374-466_4374-464del
NM_001142765.2:c.4161-466_4161-464del	NP_001136237.1:n.4161-466_4161-464del
NM_001142766.2:c.4359-466_4359-464del	NP_001136238.1:n.4359-466_4359-464del
NM_001142768.2:c.4308-466_4308-464del	NP_001136240.1:n.4308-466_4308-464del
NM_001142769.3:c.4409+1312_4409+1314del	NP_001136241.1:n.4409+1312_4409+1314del
NM_001142770.3:c.4373+1312_4373+1314del	NP_001136242.1:n.4373+1312_4373+1314del
NM_001142771.2:c.4388+1312_4388+1314del	NP_001136243.1:n.4388+1312_4388+1314del
NM_001142772.2:c.4373+1312_4373+1314del	NP_001136244.1:n.4373+1312_4373+1314del
NM_001142773.2:c.4299-466_4299-464del	NP_001136245.1:n.4299-466_4299-464del
NM_001354411.2:c.4388+3569_4388+3571del	NP_001341340.1:n.4388+3569_4388+3571del
NM_001354420.2:c.4367+3569_4367+3571del	NP_001341349.1:n.4367+3569_4367+3571del
NM_001354429.2:c.4367+3569_4367+3571del	NP_001341358.1:n.4367+3569_4367+3571del
NM_033056.4:c.4368-466_4368-464del MANE Plus Clinical	NP_149045.3:n.4368-466_4368-464del
NM_001142767.2:c.4248-466_4248-464del	NP_001136239.1:n.4248-466_4248-464del
NM_001354404.2:c.4302-466_4302-464del	NP_001341333.1:n.4302-466_4302-464del
NM_001384140.1:c.4367+3569_4367+3571del MANE Select	NP_001371069.1:n.4367+3569_4367+3571del