Canonical Allele Identifier: CA2574454505

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 2182977
• ClinVar RCV Id: RCV002611123
• gnomAD v4: 10-53821982-A-AGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53821983_53821985dup , CM000672.2:g.53821983_53821985dup	GRCh38
NC_000010.10:g.55581743_55581745dup , CM000672.1:g.55581743_55581745dup	GRCh37
NC_000010.9:g.55251749_55251751dup	NCBI36
NG_009191.2:g.984307_984309dup
NG_009191.3:g.1812198_1812200dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+3151_4409+3153dup	ENSP00000482794.1:n.4409+3151_4409+3153dup
ENST00000320301.11:c.5741_5743dup MANE Plus Clinical	ENSP00000322604.6:p.Glu1914_Leu1915insGln
ENST00000395445.6:c.4388+5408_4388+5410dup	ENSP00000378832.2:n.4388+5408_4388+5410dup
ENST00000613657.5:c.4409+3151_4409+3153dup	ENSP00000482794.1:n.4409+3151_4409+3153dup
ENST00000642496.1:c.3227-1755_3227-1753dup
ENST00000644397.2:c.4368-1755_4368-1753dup MANE Select	ENSP00000495195.1:n.4368-1755_4368-1753dup
ENST00000320301.10:c.5741_5743dup	ENSP00000322604.6:p.Glu1914_Leu1915insGln
ENST00000361849.7:c.5747_5749dup	ENSP00000354950.3:p.Glu1916_Leu1917insGln
ENST00000373956.7:c.*3696_*3698dup	ENSP00000363067.4:n.*3696_*3698dup
ENST00000373957.7:c.5762_5764dup	ENSP00000363068.4:p.Glu1921_Leu1922insGln
ENST00000373965.6:c.4373+3151_4373+3153dup	ENSP00000363076.3:n.4373+3151_4373+3153dup
ENST00000395430.5:c.5732_5734dup	ENSP00000378818.1:p.Glu1911_Leu1912insGln
ENST00000395432.6:c.5621_5623dup	ENSP00000378820.2:p.Glu1874_Leu1875insGln
ENST00000395433.5:c.5672_5674dup	ENSP00000378821.1:p.Glu1891_Leu1892insGln
ENST00000395438.5:c.4371+5407_4371+5409dup	ENSP00000378826.2:n.4371+5407_4371+5409dup
ENST00000395440.5:c.1306-12439_1306-12437dup	ENSP00000378827.1:n.1306-12439_1306-12437dup
ENST00000395442.5:c.1099-12439_1099-12437dup	ENSP00000378829.1:n.1099-12439_1099-12437dup
ENST00000395445.5:c.4388+5408_4388+5410dup	ENSP00000378832.2:n.4388+5408_4388+5410dup
ENST00000395446.5:c.2092-12439_2092-12437dup	ENSP00000378833.1:n.2092-12439_2092-12437dup
ENST00000409834.5:c.3206+3151_3206+3153dup	ENSP00000386693.1:n.3206+3151_3206+3153dup
ENST00000414367.5:c.*447+5408_*447+5410dup	ENSP00000412531.1:n.*447+5408_*447+5410dup
ENST00000414778.5:c.4370+5408_4370+5410dup	ENSP00000410304.2:n.4370+5408_4370+5410dup
ENST00000437009.5:c.5534_5536dup	ENSP00000412628.2:p.Glu1845_Leu1846insGln
ENST00000448885.5:c.*3702_*3704dup	ENSP00000412320.1:n.*3702_*3704dup
ENST00000463095.2:n.2760_2762dup
ENST00000495484.5:c.462-3972_462-3970dup	ENSP00000480780.1:n.462-3972_462-3970dup
ENST00000612394.4:c.4406+5408_4406+5410dup	ENSP00000482921.1:n.4406+5408_4406+5410dup
ENST00000613657.4:c.4409+3151_4409+3153dup	ENSP00000482794.1:n.4409+3151_4409+3153dup
ENST00000614895.4:c.4385+5408_4385+5410dup	ENSP00000478512.1:n.4385+5408_4385+5410dup
ENST00000616114.4:c.4367+5408_4367+5410dup	ENSP00000483745.1:n.4367+5408_4367+5410dup
ENST00000617051.4:c.5768_5770dup	ENSP00000484703.1:p.Glu1923_Leu1924insGln
ENST00000617271.4:c.4373+3151_4373+3153dup	ENSP00000478076.1:n.4373+3151_4373+3153dup
ENST00000618301.4:c.594-3972_594-3970dup	ENSP00000482780.1:n.594-3972_594-3970dup
ENST00000621708.4:c.4388+3151_4388+3153dup	ENSP00000484454.1:n.4388+3151_4388+3153dup
ENST00000622048.4:c.5540_5542dup	ENSP00000482329.1:p.Glu1847_Leu1848insGln
NM_001142763.1:c.5762_5764dup	NP_001136235.1:p.Glu1921_Leu1922insGln
NM_001142764.1:c.5747_5749dup	NP_001136236.1:p.Glu1916_Leu1917insGln
NM_001142765.1:c.5534_5536dup	NP_001136237.1:p.Glu1845_Leu1846insGln
NM_001142766.1:c.5732_5734dup	NP_001136238.1:p.Glu1911_Leu1912insGln
NM_001142767.1:c.5621_5623dup	NP_001136239.1:p.Glu1874_Leu1875insGln
NM_001142768.1:c.5681_5683dup	NP_001136240.1:p.Glu1894_Leu1895insGln
NM_001142769.1:c.4409+3151_4409+3153dup	NP_001136241.1:n.4409+3151_4409+3153dup
NM_001142770.1:c.4373+3151_4373+3153dup	NP_001136242.1:n.4373+3151_4373+3153dup
NM_001142771.1:c.4388+3151_4388+3153dup	NP_001136243.1:n.4388+3151_4388+3153dup
NM_001142772.1:c.4373+3151_4373+3153dup	NP_001136244.1:n.4373+3151_4373+3153dup
NM_001142773.1:c.5672_5674dup	NP_001136245.1:p.Glu1891_Leu1892insGln
NM_033056.3:c.5741_5743dup	NP_149045.3:p.Glu1914_Leu1915insGln
NM_001142769.2:c.4409+3151_4409+3153dup	NP_001136241.1:n.4409+3151_4409+3153dup
NM_001142770.2:c.4373+3151_4373+3153dup	NP_001136242.1:n.4373+3151_4373+3153dup
NM_001354404.1:c.5675_5677dup	NP_001341333.1:p.Glu1892_Leu1893insGln
NM_001354411.1:c.4388+5408_4388+5410dup	NP_001341340.1:n.4388+5408_4388+5410dup
NM_001354420.1:c.4367+5408_4367+5410dup	NP_001341349.1:n.4367+5408_4367+5410dup
NM_001354429.1:c.4368-3972_4368-3970dup	NP_001341358.1:n.4368-3972_4368-3970dup
XM_017016573.2:c.4388+3151_4388+3153dup	XP_016872062.1:n.4388+3151_4388+3153dup
XR_001747192.2:n.6754_6756dup
XR_001747193.2:n.6745_6747dup
NM_001142763.2:c.5762_5764dup	NP_001136235.1:p.Glu1921_Leu1922insGln
NM_001142764.2:c.5747_5749dup	NP_001136236.1:p.Glu1916_Leu1917insGln
NM_001142765.2:c.5534_5536dup	NP_001136237.1:p.Glu1845_Leu1846insGln
NM_001142766.2:c.5732_5734dup	NP_001136238.1:p.Glu1911_Leu1912insGln
NM_001142768.2:c.5681_5683dup	NP_001136240.1:p.Glu1894_Leu1895insGln
NM_001142769.3:c.4409+3151_4409+3153dup	NP_001136241.1:n.4409+3151_4409+3153dup
NM_001142770.3:c.4373+3151_4373+3153dup	NP_001136242.1:n.4373+3151_4373+3153dup
NM_001142771.2:c.4388+3151_4388+3153dup	NP_001136243.1:n.4388+3151_4388+3153dup
NM_001142772.2:c.4373+3151_4373+3153dup	NP_001136244.1:n.4373+3151_4373+3153dup
NM_001142773.2:c.5672_5674dup	NP_001136245.1:p.Glu1891_Leu1892insGln
NM_001354411.2:c.4388+5408_4388+5410dup	NP_001341340.1:n.4388+5408_4388+5410dup
NM_001354420.2:c.4367+5408_4367+5410dup	NP_001341349.1:n.4367+5408_4367+5410dup
NM_001354429.2:c.4368-3972_4368-3970dup	NP_001341358.1:n.4368-3972_4368-3970dup
NM_033056.4:c.5741_5743dup MANE Plus Clinical	NP_149045.3:p.Glu1914_Leu1915insGln
NM_001142767.2:c.5621_5623dup	NP_001136239.1:p.Glu1874_Leu1875insGln
NM_001354404.2:c.5675_5677dup	NP_001341333.1:p.Glu1892_Leu1893insGln
NM_001384140.1:c.4368-1755_4368-1753dup MANE Select	NP_001371069.1:n.4368-1755_4368-1753dup