Canonical Allele Identifier: CA5505075

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1597813
• ClinVar RCV Id: RCV002120059
• dbSNP Id: rs397517465
• ExAC: 10:55582193 GAGGAGCAGGAGC / G
• gnomAD v2: 10-55582193-GAGGAGCAGGAGC-G
• gnomAD v3: 10-53822433-GAGGAGCAGGAGC-G
• gnomAD v4: 10-53822433-GAGGAGCAGGAGC-G
• MyVariant Identifiers: chr10:g.55582194_55582205del (hg19) ; chr10:g.53822434_53822445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822439_53822450del , CM000672.2:g.53822439_53822450del	GRCh38
NC_000010.10:g.55582199_55582210del , CM000672.1:g.55582199_55582210del	GRCh37
NC_000010.9:g.55252205_55252216del	NCBI36
NG_009191.2:g.983847_983858del
NG_009191.3:g.1811738_1811749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2691_4409+2702del	ENSP00000482794.1:n.4409+2691_4409+2702del
ENST00000320301.11:c.5281_5292del MANE Plus Clinical	ENSP00000322604.6:p.Ala1761_Pro1764del
ENST00000395445.6:c.4388+4948_4388+4959del	ENSP00000378832.2:n.4388+4948_4388+4959del
ENST00000613657.5:c.4409+2691_4409+2702del	ENSP00000482794.1:n.4409+2691_4409+2702del
ENST00000642496.1:c.3227-2215_3227-2204del
ENST00000644397.2:c.4368-2215_4368-2204del MANE Select	ENSP00000495195.1:n.4368-2215_4368-2204del
ENST00000320301.10:c.5281_5292del	ENSP00000322604.6:p.Ala1761_Pro1764del
ENST00000361849.7:c.5287_5298del	ENSP00000354950.3:p.Ala1763_Pro1766del
ENST00000373956.7:c.*3236_*3247del	ENSP00000363067.4:n.*3236_*3247del
ENST00000373957.7:c.5302_5313del	ENSP00000363068.4:p.Ala1768_Pro1771del
ENST00000373965.6:c.4373+2691_4373+2702del	ENSP00000363076.3:n.4373+2691_4373+2702del
ENST00000395430.5:c.5272_5283del	ENSP00000378818.1:p.Ala1758_Pro1761del
ENST00000395432.6:c.5161_5172del	ENSP00000378820.2:p.Ala1721_Pro1724del
ENST00000395433.5:c.5212_5223del	ENSP00000378821.1:p.Ala1738_Pro1741del
ENST00000395438.5:c.4371+4947_4371+4958del	ENSP00000378826.2:n.4371+4947_4371+4958del
ENST00000395440.5:c.1306-12899_1306-12888del	ENSP00000378827.1:n.1306-12899_1306-12888del
ENST00000395442.5:c.1099-12899_1099-12888del	ENSP00000378829.1:n.1099-12899_1099-12888del
ENST00000395445.5:c.4388+4948_4388+4959del	ENSP00000378832.2:n.4388+4948_4388+4959del
ENST00000395446.5:c.2092-12899_2092-12888del	ENSP00000378833.1:n.2092-12899_2092-12888del
ENST00000409834.5:c.3206+2691_3206+2702del	ENSP00000386693.1:n.3206+2691_3206+2702del
ENST00000414367.5:c.*447+4948_*447+4959del	ENSP00000412531.1:n.*447+4948_*447+4959del
ENST00000414778.5:c.4370+4948_4370+4959del	ENSP00000410304.2:n.4370+4948_4370+4959del
ENST00000437009.5:c.5074_5085del	ENSP00000412628.2:p.Ala1692_Pro1695del
ENST00000448885.5:c.*3242_*3253del	ENSP00000412320.1:n.*3242_*3253del
ENST00000463095.2:n.2300_2311del
ENST00000495484.5:c.462-4432_462-4421del	ENSP00000480780.1:n.462-4432_462-4421del
ENST00000612394.4:c.4406+4948_4406+4959del	ENSP00000482921.1:n.4406+4948_4406+4959del
ENST00000613657.4:c.4409+2691_4409+2702del	ENSP00000482794.1:n.4409+2691_4409+2702del
ENST00000614895.4:c.4385+4948_4385+4959del	ENSP00000478512.1:n.4385+4948_4385+4959del
ENST00000616114.4:c.4367+4948_4367+4959del	ENSP00000483745.1:n.4367+4948_4367+4959del
ENST00000617051.4:c.5308_5319del	ENSP00000484703.1:p.Ala1770_Pro1773del
ENST00000617271.4:c.4373+2691_4373+2702del	ENSP00000478076.1:n.4373+2691_4373+2702del
ENST00000618301.4:c.594-4432_594-4421del	ENSP00000482780.1:n.594-4432_594-4421del
ENST00000621708.4:c.4388+2691_4388+2702del	ENSP00000484454.1:n.4388+2691_4388+2702del
ENST00000622048.4:c.5080_5091del	ENSP00000482329.1:p.Ala1694_Pro1697del
NM_001142763.1:c.5302_5313del	NP_001136235.1:p.Ala1768_Pro1771del
NM_001142764.1:c.5287_5298del	NP_001136236.1:p.Ala1763_Pro1766del
NM_001142765.1:c.5074_5085del	NP_001136237.1:p.Ala1692_Pro1695del
NM_001142766.1:c.5272_5283del	NP_001136238.1:p.Ala1758_Pro1761del
NM_001142767.1:c.5161_5172del	NP_001136239.1:p.Ala1721_Pro1724del
NM_001142768.1:c.5221_5232del	NP_001136240.1:p.Ala1741_Pro1744del
NM_001142769.1:c.4409+2691_4409+2702del	NP_001136241.1:n.4409+2691_4409+2702del
NM_001142770.1:c.4373+2691_4373+2702del	NP_001136242.1:n.4373+2691_4373+2702del
NM_001142771.1:c.4388+2691_4388+2702del	NP_001136243.1:n.4388+2691_4388+2702del
NM_001142772.1:c.4373+2691_4373+2702del	NP_001136244.1:n.4373+2691_4373+2702del
NM_001142773.1:c.5212_5223del	NP_001136245.1:p.Ala1738_Pro1741del
NM_033056.3:c.5281_5292del	NP_149045.3:p.Ala1761_Pro1764del
NM_001142769.2:c.4409+2691_4409+2702del	NP_001136241.1:n.4409+2691_4409+2702del
NM_001142770.2:c.4373+2691_4373+2702del	NP_001136242.1:n.4373+2691_4373+2702del
NM_001354404.1:c.5215_5226del	NP_001341333.1:p.Ala1739_Pro1742del
NM_001354411.1:c.4388+4948_4388+4959del	NP_001341340.1:n.4388+4948_4388+4959del
NM_001354420.1:c.4367+4948_4367+4959del	NP_001341349.1:n.4367+4948_4367+4959del
NM_001354429.1:c.4368-4432_4368-4421del	NP_001341358.1:n.4368-4432_4368-4421del
XM_017016573.2:c.4388+2691_4388+2702del	XP_016872062.1:n.4388+2691_4388+2702del
XR_001747192.2:n.6294_6305del
XR_001747193.2:n.6285_6296del
NM_001142763.2:c.5302_5313del	NP_001136235.1:p.Ala1768_Pro1771del
NM_001142764.2:c.5287_5298del	NP_001136236.1:p.Ala1763_Pro1766del
NM_001142765.2:c.5074_5085del	NP_001136237.1:p.Ala1692_Pro1695del
NM_001142766.2:c.5272_5283del	NP_001136238.1:p.Ala1758_Pro1761del
NM_001142768.2:c.5221_5232del	NP_001136240.1:p.Ala1741_Pro1744del
NM_001142769.3:c.4409+2691_4409+2702del	NP_001136241.1:n.4409+2691_4409+2702del
NM_001142770.3:c.4373+2691_4373+2702del	NP_001136242.1:n.4373+2691_4373+2702del
NM_001142771.2:c.4388+2691_4388+2702del	NP_001136243.1:n.4388+2691_4388+2702del
NM_001142772.2:c.4373+2691_4373+2702del	NP_001136244.1:n.4373+2691_4373+2702del
NM_001142773.2:c.5212_5223del	NP_001136245.1:p.Ala1738_Pro1741del
NM_001354411.2:c.4388+4948_4388+4959del	NP_001341340.1:n.4388+4948_4388+4959del
NM_001354420.2:c.4367+4948_4367+4959del	NP_001341349.1:n.4367+4948_4367+4959del
NM_001354429.2:c.4368-4432_4368-4421del	NP_001341358.1:n.4368-4432_4368-4421del
NM_033056.4:c.5281_5292del MANE Plus Clinical	NP_149045.3:p.Ala1761_Pro1764del
NM_001142767.2:c.5161_5172del	NP_001136239.1:p.Ala1721_Pro1724del
NM_001354404.2:c.5215_5226del	NP_001341333.1:p.Ala1739_Pro1742del
NM_001384140.1:c.4368-2215_4368-2204del MANE Select	NP_001371069.1:n.4368-2215_4368-2204del