Canonical Allele Identifier: CA928497361

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 2762337
• ClinVar RCV Id: RCV003570020
• gnomAD v3: 10-53822360-GGAAGAGGGATAGAAGGA-G
• gnomAD v4: 10-53822360-GGAAGAGGGATAGAAGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822362_53822378del , CM000672.2:g.53822362_53822378del	GRCh38
NC_000010.10:g.55582122_55582138del , CM000672.1:g.55582122_55582138del	GRCh37
NC_000010.9:g.55252128_55252144del	NCBI36
NG_009191.2:g.983915_983931del
NG_009191.3:g.1811806_1811822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2759_4409+2775del	ENSP00000482794.1:n.4409+2759_4409+2775del
ENST00000320301.11:c.5349_5365del MANE Plus Clinical	ENSP00000322604.6:p.Pro1784SerfsTer?
ENST00000395445.6:c.4388+5016_4388+5032del	ENSP00000378832.2:n.4388+5016_4388+5032del
ENST00000613657.5:c.4409+2759_4409+2775del	ENSP00000482794.1:n.4409+2759_4409+2775del
ENST00000642496.1:c.3227-2147_3227-2131del
ENST00000644397.2:c.4368-2147_4368-2131del MANE Select	ENSP00000495195.1:n.4368-2147_4368-2131del
ENST00000320301.10:c.5349_5365del	ENSP00000322604.6:p.Pro1784SerfsTer?
ENST00000361849.7:c.5355_5371del	ENSP00000354950.3:p.Pro1786SerfsTer?
ENST00000373956.7:c.*3304_*3320del	ENSP00000363067.4:n.*3304_*3320del
ENST00000373957.7:c.5370_5386del	ENSP00000363068.4:p.Pro1791SerfsTer?
ENST00000373965.6:c.4373+2759_4373+2775del	ENSP00000363076.3:n.4373+2759_4373+2775del
ENST00000395430.5:c.5340_5356del	ENSP00000378818.1:p.Pro1781SerfsTer?
ENST00000395432.6:c.5229_5245del	ENSP00000378820.2:p.Pro1744SerfsTer?
ENST00000395433.5:c.5280_5296del	ENSP00000378821.1:p.Pro1761SerfsTer?
ENST00000395438.5:c.4371+5015_4371+5031del	ENSP00000378826.2:n.4371+5015_4371+5031del
ENST00000395440.5:c.1306-12831_1306-12815del	ENSP00000378827.1:n.1306-12831_1306-12815del
ENST00000395442.5:c.1099-12831_1099-12815del	ENSP00000378829.1:n.1099-12831_1099-12815del
ENST00000395445.5:c.4388+5016_4388+5032del	ENSP00000378832.2:n.4388+5016_4388+5032del
ENST00000395446.5:c.2092-12831_2092-12815del	ENSP00000378833.1:n.2092-12831_2092-12815del
ENST00000409834.5:c.3206+2759_3206+2775del	ENSP00000386693.1:n.3206+2759_3206+2775del
ENST00000414367.5:c.*447+5016_*447+5032del	ENSP00000412531.1:n.*447+5016_*447+5032del
ENST00000414778.5:c.4370+5016_4370+5032del	ENSP00000410304.2:n.4370+5016_4370+5032del
ENST00000437009.5:c.5142_5158del	ENSP00000412628.2:p.Pro1715SerfsTer?
ENST00000448885.5:c.*3310_*3326del	ENSP00000412320.1:n.*3310_*3326del
ENST00000463095.2:n.2368_2384del
ENST00000495484.5:c.462-4364_462-4348del	ENSP00000480780.1:n.462-4364_462-4348del
ENST00000612394.4:c.4406+5016_4406+5032del	ENSP00000482921.1:n.4406+5016_4406+5032del
ENST00000613657.4:c.4409+2759_4409+2775del	ENSP00000482794.1:n.4409+2759_4409+2775del
ENST00000614895.4:c.4385+5016_4385+5032del	ENSP00000478512.1:n.4385+5016_4385+5032del
ENST00000616114.4:c.4367+5016_4367+5032del	ENSP00000483745.1:n.4367+5016_4367+5032del
ENST00000617051.4:c.5376_5392del	ENSP00000484703.1:p.Pro1793SerfsTer?
ENST00000617271.4:c.4373+2759_4373+2775del	ENSP00000478076.1:n.4373+2759_4373+2775del
ENST00000618301.4:c.594-4364_594-4348del	ENSP00000482780.1:n.594-4364_594-4348del
ENST00000621708.4:c.4388+2759_4388+2775del	ENSP00000484454.1:n.4388+2759_4388+2775del
ENST00000622048.4:c.5148_5164del	ENSP00000482329.1:p.Pro1717SerfsTer?
NM_001142763.1:c.5370_5386del	NP_001136235.1:p.Pro1791SerfsTer?
NM_001142764.1:c.5355_5371del	NP_001136236.1:p.Pro1786SerfsTer?
NM_001142765.1:c.5142_5158del	NP_001136237.1:p.Pro1715SerfsTer?
NM_001142766.1:c.5340_5356del	NP_001136238.1:p.Pro1781SerfsTer?
NM_001142767.1:c.5229_5245del	NP_001136239.1:p.Pro1744SerfsTer?
NM_001142768.1:c.5289_5305del	NP_001136240.1:p.Pro1764SerfsTer?
NM_001142769.1:c.4409+2759_4409+2775del	NP_001136241.1:n.4409+2759_4409+2775del
NM_001142770.1:c.4373+2759_4373+2775del	NP_001136242.1:n.4373+2759_4373+2775del
NM_001142771.1:c.4388+2759_4388+2775del	NP_001136243.1:n.4388+2759_4388+2775del
NM_001142772.1:c.4373+2759_4373+2775del	NP_001136244.1:n.4373+2759_4373+2775del
NM_001142773.1:c.5280_5296del	NP_001136245.1:p.Pro1761SerfsTer?
NM_033056.3:c.5349_5365del	NP_149045.3:p.Pro1784SerfsTer?
NM_001142769.2:c.4409+2759_4409+2775del	NP_001136241.1:n.4409+2759_4409+2775del
NM_001142770.2:c.4373+2759_4373+2775del	NP_001136242.1:n.4373+2759_4373+2775del
NM_001354404.1:c.5283_5299del	NP_001341333.1:p.Pro1762SerfsTer?
NM_001354411.1:c.4388+5016_4388+5032del	NP_001341340.1:n.4388+5016_4388+5032del
NM_001354420.1:c.4367+5016_4367+5032del	NP_001341349.1:n.4367+5016_4367+5032del
NM_001354429.1:c.4368-4364_4368-4348del	NP_001341358.1:n.4368-4364_4368-4348del
XM_017016573.2:c.4388+2759_4388+2775del	XP_016872062.1:n.4388+2759_4388+2775del
XR_001747192.2:n.6362_6378del
XR_001747193.2:n.6353_6369del
NM_001142763.2:c.5370_5386del	NP_001136235.1:p.Pro1791SerfsTer?
NM_001142764.2:c.5355_5371del	NP_001136236.1:p.Pro1786SerfsTer?
NM_001142765.2:c.5142_5158del	NP_001136237.1:p.Pro1715SerfsTer?
NM_001142766.2:c.5340_5356del	NP_001136238.1:p.Pro1781SerfsTer?
NM_001142768.2:c.5289_5305del	NP_001136240.1:p.Pro1764SerfsTer?
NM_001142769.3:c.4409+2759_4409+2775del	NP_001136241.1:n.4409+2759_4409+2775del
NM_001142770.3:c.4373+2759_4373+2775del	NP_001136242.1:n.4373+2759_4373+2775del
NM_001142771.2:c.4388+2759_4388+2775del	NP_001136243.1:n.4388+2759_4388+2775del
NM_001142772.2:c.4373+2759_4373+2775del	NP_001136244.1:n.4373+2759_4373+2775del
NM_001142773.2:c.5280_5296del	NP_001136245.1:p.Pro1761SerfsTer?
NM_001354411.2:c.4388+5016_4388+5032del	NP_001341340.1:n.4388+5016_4388+5032del
NM_001354420.2:c.4367+5016_4367+5032del	NP_001341349.1:n.4367+5016_4367+5032del
NM_001354429.2:c.4368-4364_4368-4348del	NP_001341358.1:n.4368-4364_4368-4348del
NM_033056.4:c.5349_5365del MANE Plus Clinical	NP_149045.3:p.Pro1784SerfsTer?
NM_001142767.2:c.5229_5245del	NP_001136239.1:p.Pro1744SerfsTer?
NM_001354404.2:c.5283_5299del	NP_001341333.1:p.Pro1762SerfsTer?
NM_001384140.1:c.4368-2147_4368-2131del MANE Select	NP_001371069.1:n.4368-2147_4368-2131del