Canonical Allele Identifier: CA5505034

Gene: PCDH15

Linked Data

• dbSNP Id: rs751688073
• ExAC: 10:55582040 TTGGAAA / T
• gnomAD v2: 10-55582040-TTGGAAA-T
• gnomAD v4: 10-53822280-TTGGAAA-T
• MyVariant Identifiers: chr10:g.55582041_55582046del (hg19) ; chr10:g.53822281_53822286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822285_53822290del , CM000672.2:g.53822285_53822290del	GRCh38
NC_000010.10:g.55582045_55582050del , CM000672.1:g.55582045_55582050del	GRCh37
NC_000010.9:g.55252051_55252056del	NCBI36
NG_009191.2:g.984006_984011del
NG_009191.3:g.1811897_1811902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2850_4409+2855del	ENSP00000482794.1:n.4409+2850_4409+2855del
ENST00000320301.11:c.5440_5445del MANE Plus Clinical	ENSP00000322604.6:p.Phe1814_Pro1815del
ENST00000395445.6:c.4388+5107_4388+5112del	ENSP00000378832.2:n.4388+5107_4388+5112del
ENST00000613657.5:c.4409+2850_4409+2855del	ENSP00000482794.1:n.4409+2850_4409+2855del
ENST00000642496.1:c.3227-2056_3227-2051del
ENST00000644397.2:c.4368-2056_4368-2051del MANE Select	ENSP00000495195.1:n.4368-2056_4368-2051del
ENST00000320301.10:c.5440_5445del	ENSP00000322604.6:p.Phe1814_Pro1815del
ENST00000361849.7:c.5446_5451del	ENSP00000354950.3:p.Phe1816_Pro1817del
ENST00000373956.7:c.*3395_*3400del	ENSP00000363067.4:n.*3395_*3400del
ENST00000373957.7:c.5461_5466del	ENSP00000363068.4:p.Phe1821_Pro1822del
ENST00000373965.6:c.4373+2850_4373+2855del	ENSP00000363076.3:n.4373+2850_4373+2855del
ENST00000395430.5:c.5431_5436del	ENSP00000378818.1:p.Phe1811_Pro1812del
ENST00000395432.6:c.5320_5325del	ENSP00000378820.2:p.Phe1774_Pro1775del
ENST00000395433.5:c.5371_5376del	ENSP00000378821.1:p.Phe1791_Pro1792del
ENST00000395438.5:c.4371+5106_4371+5111del	ENSP00000378826.2:n.4371+5106_4371+5111del
ENST00000395440.5:c.1306-12740_1306-12735del	ENSP00000378827.1:n.1306-12740_1306-12735del
ENST00000395442.5:c.1099-12740_1099-12735del	ENSP00000378829.1:n.1099-12740_1099-12735del
ENST00000395445.5:c.4388+5107_4388+5112del	ENSP00000378832.2:n.4388+5107_4388+5112del
ENST00000395446.5:c.2092-12740_2092-12735del	ENSP00000378833.1:n.2092-12740_2092-12735del
ENST00000409834.5:c.3206+2850_3206+2855del	ENSP00000386693.1:n.3206+2850_3206+2855del
ENST00000414367.5:c.*447+5107_*447+5112del	ENSP00000412531.1:n.*447+5107_*447+5112del
ENST00000414778.5:c.4370+5107_4370+5112del	ENSP00000410304.2:n.4370+5107_4370+5112del
ENST00000437009.5:c.5233_5238del	ENSP00000412628.2:p.Phe1745_Pro1746del
ENST00000448885.5:c.*3401_*3406del	ENSP00000412320.1:n.*3401_*3406del
ENST00000463095.2:n.2459_2464del
ENST00000495484.5:c.462-4273_462-4268del	ENSP00000480780.1:n.462-4273_462-4268del
ENST00000612394.4:c.4406+5107_4406+5112del	ENSP00000482921.1:n.4406+5107_4406+5112del
ENST00000613657.4:c.4409+2850_4409+2855del	ENSP00000482794.1:n.4409+2850_4409+2855del
ENST00000614895.4:c.4385+5107_4385+5112del	ENSP00000478512.1:n.4385+5107_4385+5112del
ENST00000616114.4:c.4367+5107_4367+5112del	ENSP00000483745.1:n.4367+5107_4367+5112del
ENST00000617051.4:c.5467_5472del	ENSP00000484703.1:p.Phe1823_Pro1824del
ENST00000617271.4:c.4373+2850_4373+2855del	ENSP00000478076.1:n.4373+2850_4373+2855del
ENST00000618301.4:c.594-4273_594-4268del	ENSP00000482780.1:n.594-4273_594-4268del
ENST00000621708.4:c.4388+2850_4388+2855del	ENSP00000484454.1:n.4388+2850_4388+2855del
ENST00000622048.4:c.5239_5244del	ENSP00000482329.1:p.Phe1747_Pro1748del
NM_001142763.1:c.5461_5466del	NP_001136235.1:p.Phe1821_Pro1822del
NM_001142764.1:c.5446_5451del	NP_001136236.1:p.Phe1816_Pro1817del
NM_001142765.1:c.5233_5238del	NP_001136237.1:p.Phe1745_Pro1746del
NM_001142766.1:c.5431_5436del	NP_001136238.1:p.Phe1811_Pro1812del
NM_001142767.1:c.5320_5325del	NP_001136239.1:p.Phe1774_Pro1775del
NM_001142768.1:c.5380_5385del	NP_001136240.1:p.Phe1794_Pro1795del
NM_001142769.1:c.4409+2850_4409+2855del	NP_001136241.1:n.4409+2850_4409+2855del
NM_001142770.1:c.4373+2850_4373+2855del	NP_001136242.1:n.4373+2850_4373+2855del
NM_001142771.1:c.4388+2850_4388+2855del	NP_001136243.1:n.4388+2850_4388+2855del
NM_001142772.1:c.4373+2850_4373+2855del	NP_001136244.1:n.4373+2850_4373+2855del
NM_001142773.1:c.5371_5376del	NP_001136245.1:p.Phe1791_Pro1792del
NM_033056.3:c.5440_5445del	NP_149045.3:p.Phe1814_Pro1815del
NM_001142769.2:c.4409+2850_4409+2855del	NP_001136241.1:n.4409+2850_4409+2855del
NM_001142770.2:c.4373+2850_4373+2855del	NP_001136242.1:n.4373+2850_4373+2855del
NM_001354404.1:c.5374_5379del	NP_001341333.1:p.Phe1792_Pro1793del
NM_001354411.1:c.4388+5107_4388+5112del	NP_001341340.1:n.4388+5107_4388+5112del
NM_001354420.1:c.4367+5107_4367+5112del	NP_001341349.1:n.4367+5107_4367+5112del
NM_001354429.1:c.4368-4273_4368-4268del	NP_001341358.1:n.4368-4273_4368-4268del
XM_017016573.2:c.4388+2850_4388+2855del	XP_016872062.1:n.4388+2850_4388+2855del
XR_001747192.2:n.6453_6458del
XR_001747193.2:n.6444_6449del
NM_001142763.2:c.5461_5466del	NP_001136235.1:p.Phe1821_Pro1822del
NM_001142764.2:c.5446_5451del	NP_001136236.1:p.Phe1816_Pro1817del
NM_001142765.2:c.5233_5238del	NP_001136237.1:p.Phe1745_Pro1746del
NM_001142766.2:c.5431_5436del	NP_001136238.1:p.Phe1811_Pro1812del
NM_001142768.2:c.5380_5385del	NP_001136240.1:p.Phe1794_Pro1795del
NM_001142769.3:c.4409+2850_4409+2855del	NP_001136241.1:n.4409+2850_4409+2855del
NM_001142770.3:c.4373+2850_4373+2855del	NP_001136242.1:n.4373+2850_4373+2855del
NM_001142771.2:c.4388+2850_4388+2855del	NP_001136243.1:n.4388+2850_4388+2855del
NM_001142772.2:c.4373+2850_4373+2855del	NP_001136244.1:n.4373+2850_4373+2855del
NM_001142773.2:c.5371_5376del	NP_001136245.1:p.Phe1791_Pro1792del
NM_001354411.2:c.4388+5107_4388+5112del	NP_001341340.1:n.4388+5107_4388+5112del
NM_001354420.2:c.4367+5107_4367+5112del	NP_001341349.1:n.4367+5107_4367+5112del
NM_001354429.2:c.4368-4273_4368-4268del	NP_001341358.1:n.4368-4273_4368-4268del
NM_033056.4:c.5440_5445del MANE Plus Clinical	NP_149045.3:p.Phe1814_Pro1815del
NM_001142767.2:c.5320_5325del	NP_001136239.1:p.Phe1774_Pro1775del
NM_001354404.2:c.5374_5379del	NP_001341333.1:p.Phe1792_Pro1793del
NM_001384140.1:c.4368-2056_4368-2051del MANE Select	NP_001371069.1:n.4368-2056_4368-2051del