Canonical Allele Identifier: CA2573145190

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1601942
• ClinVar RCV Id: RCV002127613
• dbSNP Id: rs2132482473

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822018_53822021dup , CM000672.2:g.53822018_53822021dup	GRCh38
NC_000010.10:g.55581778_55581781dup , CM000672.1:g.55581778_55581781dup	GRCh37
NC_000010.9:g.55251784_55251787dup	NCBI36
NG_009191.2:g.984272_984275dup
NG_009191.3:g.1812163_1812166dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+3116_4409+3119dup	ENSP00000482794.1:n.4409+3116_4409+3119dup
ENST00000320301.11:c.5706_5709dup MANE Plus Clinical	ENSP00000322604.6:p.Glu1904AsnfsTer29
ENST00000395445.6:c.4388+5373_4388+5376dup	ENSP00000378832.2:n.4388+5373_4388+5376dup
ENST00000613657.5:c.4409+3116_4409+3119dup	ENSP00000482794.1:n.4409+3116_4409+3119dup
ENST00000642496.1:c.3227-1790_3227-1787dup
ENST00000644397.2:c.4368-1790_4368-1787dup MANE Select	ENSP00000495195.1:n.4368-1790_4368-1787dup
ENST00000320301.10:c.5706_5709dup	ENSP00000322604.6:p.Glu1904AsnfsTer29
ENST00000361849.7:c.5712_5715dup	ENSP00000354950.3:p.Glu1906AsnfsTer29
ENST00000373956.7:c.*3661_*3664dup	ENSP00000363067.4:n.*3661_*3664dup
ENST00000373957.7:c.5727_5730dup	ENSP00000363068.4:p.Glu1911AsnfsTer29
ENST00000373965.6:c.4373+3116_4373+3119dup	ENSP00000363076.3:n.4373+3116_4373+3119dup
ENST00000395430.5:c.5697_5700dup	ENSP00000378818.1:p.Glu1901AsnfsTer29
ENST00000395432.6:c.5586_5589dup	ENSP00000378820.2:p.Glu1864AsnfsTer29
ENST00000395433.5:c.5637_5640dup	ENSP00000378821.1:p.Glu1881AsnfsTer29
ENST00000395438.5:c.4371+5372_4371+5375dup	ENSP00000378826.2:n.4371+5372_4371+5375dup
ENST00000395440.5:c.1306-12474_1306-12471dup	ENSP00000378827.1:n.1306-12474_1306-12471dup
ENST00000395442.5:c.1099-12474_1099-12471dup	ENSP00000378829.1:n.1099-12474_1099-12471dup
ENST00000395445.5:c.4388+5373_4388+5376dup	ENSP00000378832.2:n.4388+5373_4388+5376dup
ENST00000395446.5:c.2092-12474_2092-12471dup	ENSP00000378833.1:n.2092-12474_2092-12471dup
ENST00000409834.5:c.3206+3116_3206+3119dup	ENSP00000386693.1:n.3206+3116_3206+3119dup
ENST00000414367.5:c.*447+5373_*447+5376dup	ENSP00000412531.1:n.*447+5373_*447+5376dup
ENST00000414778.5:c.4370+5373_4370+5376dup	ENSP00000410304.2:n.4370+5373_4370+5376dup
ENST00000437009.5:c.5499_5502dup	ENSP00000412628.2:p.Glu1835AsnfsTer29
ENST00000448885.5:c.*3667_*3670dup	ENSP00000412320.1:n.*3667_*3670dup
ENST00000463095.2:n.2725_2728dup
ENST00000495484.5:c.462-4007_462-4004dup	ENSP00000480780.1:n.462-4007_462-4004dup
ENST00000612394.4:c.4406+5373_4406+5376dup	ENSP00000482921.1:n.4406+5373_4406+5376dup
ENST00000613657.4:c.4409+3116_4409+3119dup	ENSP00000482794.1:n.4409+3116_4409+3119dup
ENST00000614895.4:c.4385+5373_4385+5376dup	ENSP00000478512.1:n.4385+5373_4385+5376dup
ENST00000616114.4:c.4367+5373_4367+5376dup	ENSP00000483745.1:n.4367+5373_4367+5376dup
ENST00000617051.4:c.5733_5736dup	ENSP00000484703.1:p.Glu1913AsnfsTer29
ENST00000617271.4:c.4373+3116_4373+3119dup	ENSP00000478076.1:n.4373+3116_4373+3119dup
ENST00000618301.4:c.594-4007_594-4004dup	ENSP00000482780.1:n.594-4007_594-4004dup
ENST00000621708.4:c.4388+3116_4388+3119dup	ENSP00000484454.1:n.4388+3116_4388+3119dup
ENST00000622048.4:c.5505_5508dup	ENSP00000482329.1:p.Glu1837AsnfsTer29
NM_001142763.1:c.5727_5730dup	NP_001136235.1:p.Glu1911AsnfsTer29
NM_001142764.1:c.5712_5715dup	NP_001136236.1:p.Glu1906AsnfsTer29
NM_001142765.1:c.5499_5502dup	NP_001136237.1:p.Glu1835AsnfsTer29
NM_001142766.1:c.5697_5700dup	NP_001136238.1:p.Glu1901AsnfsTer29
NM_001142767.1:c.5586_5589dup	NP_001136239.1:p.Glu1864AsnfsTer29
NM_001142768.1:c.5646_5649dup	NP_001136240.1:p.Glu1884AsnfsTer29
NM_001142769.1:c.4409+3116_4409+3119dup	NP_001136241.1:n.4409+3116_4409+3119dup
NM_001142770.1:c.4373+3116_4373+3119dup	NP_001136242.1:n.4373+3116_4373+3119dup
NM_001142771.1:c.4388+3116_4388+3119dup	NP_001136243.1:n.4388+3116_4388+3119dup
NM_001142772.1:c.4373+3116_4373+3119dup	NP_001136244.1:n.4373+3116_4373+3119dup
NM_001142773.1:c.5637_5640dup	NP_001136245.1:p.Glu1881AsnfsTer29
NM_033056.3:c.5706_5709dup	NP_149045.3:p.Glu1904AsnfsTer29
NM_001142769.2:c.4409+3116_4409+3119dup	NP_001136241.1:n.4409+3116_4409+3119dup
NM_001142770.2:c.4373+3116_4373+3119dup	NP_001136242.1:n.4373+3116_4373+3119dup
NM_001354404.1:c.5640_5643dup	NP_001341333.1:p.Glu1882AsnfsTer29
NM_001354411.1:c.4388+5373_4388+5376dup	NP_001341340.1:n.4388+5373_4388+5376dup
NM_001354420.1:c.4367+5373_4367+5376dup	NP_001341349.1:n.4367+5373_4367+5376dup
NM_001354429.1:c.4368-4007_4368-4004dup	NP_001341358.1:n.4368-4007_4368-4004dup
XM_017016573.2:c.4388+3116_4388+3119dup	XP_016872062.1:n.4388+3116_4388+3119dup
XR_001747192.2:n.6719_6722dup
XR_001747193.2:n.6710_6713dup
NM_001142763.2:c.5727_5730dup	NP_001136235.1:p.Glu1911AsnfsTer29
NM_001142764.2:c.5712_5715dup	NP_001136236.1:p.Glu1906AsnfsTer29
NM_001142765.2:c.5499_5502dup	NP_001136237.1:p.Glu1835AsnfsTer29
NM_001142766.2:c.5697_5700dup	NP_001136238.1:p.Glu1901AsnfsTer29
NM_001142768.2:c.5646_5649dup	NP_001136240.1:p.Glu1884AsnfsTer29
NM_001142769.3:c.4409+3116_4409+3119dup	NP_001136241.1:n.4409+3116_4409+3119dup
NM_001142770.3:c.4373+3116_4373+3119dup	NP_001136242.1:n.4373+3116_4373+3119dup
NM_001142771.2:c.4388+3116_4388+3119dup	NP_001136243.1:n.4388+3116_4388+3119dup
NM_001142772.2:c.4373+3116_4373+3119dup	NP_001136244.1:n.4373+3116_4373+3119dup
NM_001142773.2:c.5637_5640dup	NP_001136245.1:p.Glu1881AsnfsTer29
NM_001354411.2:c.4388+5373_4388+5376dup	NP_001341340.1:n.4388+5373_4388+5376dup
NM_001354420.2:c.4367+5373_4367+5376dup	NP_001341349.1:n.4367+5373_4367+5376dup
NM_001354429.2:c.4368-4007_4368-4004dup	NP_001341358.1:n.4368-4007_4368-4004dup
NM_033056.4:c.5706_5709dup MANE Plus Clinical	NP_149045.3:p.Glu1904AsnfsTer29
NM_001142767.2:c.5586_5589dup	NP_001136239.1:p.Glu1864AsnfsTer29
NM_001354404.2:c.5640_5643dup	NP_001341333.1:p.Glu1882AsnfsTer29
NM_001384140.1:c.4368-1790_4368-1787dup MANE Select	NP_001371069.1:n.4368-1790_4368-1787dup