Canonical Allele Identifier: CA658823210

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 551544
• ClinVar RCV Id: RCV000666630
• dbSNP Id: rs1554820902
• MyVariant Identifiers: chr10:g.53823169_53823170dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823170_53823171dup , CM000672.2:g.53823170_53823171dup	GRCh38
NC_000010.10:g.55582930_55582931dup , CM000672.1:g.55582930_55582931dup	GRCh37
NC_000010.9:g.55252936_55252937dup	NCBI36
NG_009191.2:g.983122_983123dup
NG_009191.3:g.1811013_1811014dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+1966_4409+1967dup	ENSP00000482794.1:n.4409+1966_4409+1967dup
ENST00000320301.11:c.4556_4557dup MANE Plus Clinical	ENSP00000322604.6:p.Asp1520ArgfsTer4
ENST00000395445.6:c.4388+4223_4388+4224dup	ENSP00000378832.2:n.4388+4223_4388+4224dup
ENST00000613657.5:c.4409+1966_4409+1967dup	ENSP00000482794.1:n.4409+1966_4409+1967dup
ENST00000642496.1:c.3227-2940_3227-2939dup
ENST00000644397.2:c.4368-2940_4368-2939dup MANE Select	ENSP00000495195.1:n.4368-2940_4368-2939dup
ENST00000320301.10:c.4556_4557dup	ENSP00000322604.6:p.Asp1520ArgfsTer4
ENST00000361849.7:c.4562_4563dup	ENSP00000354950.3:p.Asp1522ArgfsTer4
ENST00000373956.7:c.*2511_*2512dup	ENSP00000363067.4:n.*2511_*2512dup
ENST00000373957.7:c.4577_4578dup	ENSP00000363068.4:p.Asp1527ArgfsTer4
ENST00000373965.6:c.4373+1966_4373+1967dup	ENSP00000363076.3:n.4373+1966_4373+1967dup
ENST00000395430.5:c.4547_4548dup	ENSP00000378818.1:p.Asp1517ArgfsTer4
ENST00000395432.6:c.4436_4437dup	ENSP00000378820.2:p.Asp1480ArgfsTer4
ENST00000395433.5:c.4487_4488dup	ENSP00000378821.1:p.Asp1497ArgfsTer4
ENST00000395438.5:c.4371+4222_4371+4223dup	ENSP00000378826.2:n.4371+4222_4371+4223dup
ENST00000395440.5:c.1306-13624_1306-13623dup	ENSP00000378827.1:n.1306-13624_1306-13623dup
ENST00000395442.5:c.1099-13624_1099-13623dup	ENSP00000378829.1:n.1099-13624_1099-13623dup
ENST00000395445.5:c.4388+4223_4388+4224dup	ENSP00000378832.2:n.4388+4223_4388+4224dup
ENST00000395446.5:c.2092-13624_2092-13623dup	ENSP00000378833.1:n.2092-13624_2092-13623dup
ENST00000409834.5:c.3206+1966_3206+1967dup	ENSP00000386693.1:n.3206+1966_3206+1967dup
ENST00000414367.5:c.*447+4223_*447+4224dup	ENSP00000412531.1:n.*447+4223_*447+4224dup
ENST00000414778.5:c.4370+4223_4370+4224dup	ENSP00000410304.2:n.4370+4223_4370+4224dup
ENST00000437009.5:c.4349_4350dup	ENSP00000412628.2:p.Asp1451ArgfsTer4
ENST00000448885.5:c.*2517_*2518dup	ENSP00000412320.1:n.*2517_*2518dup
ENST00000463095.2:n.1575_1576dup
ENST00000495484.5:c.462-5157_462-5156dup	ENSP00000480780.1:n.462-5157_462-5156dup
ENST00000612394.4:c.4406+4223_4406+4224dup	ENSP00000482921.1:n.4406+4223_4406+4224dup
ENST00000613657.4:c.4409+1966_4409+1967dup	ENSP00000482794.1:n.4409+1966_4409+1967dup
ENST00000614895.4:c.4385+4223_4385+4224dup	ENSP00000478512.1:n.4385+4223_4385+4224dup
ENST00000616114.4:c.4367+4223_4367+4224dup	ENSP00000483745.1:n.4367+4223_4367+4224dup
ENST00000617051.4:c.4583_4584dup	ENSP00000484703.1:p.Asp1529ArgfsTer4
ENST00000617271.4:c.4373+1966_4373+1967dup	ENSP00000478076.1:n.4373+1966_4373+1967dup
ENST00000618301.4:c.593+4223_593+4224dup	ENSP00000482780.1:n.593+4223_593+4224dup
ENST00000621708.4:c.4388+1966_4388+1967dup	ENSP00000484454.1:n.4388+1966_4388+1967dup
ENST00000622048.4:c.4355_4356dup	ENSP00000482329.1:p.Asp1453ArgfsTer4
NM_001142763.1:c.4577_4578dup	NP_001136235.1:p.Asp1527ArgfsTer4
NM_001142764.1:c.4562_4563dup	NP_001136236.1:p.Asp1522ArgfsTer4
NM_001142765.1:c.4349_4350dup	NP_001136237.1:p.Asp1451ArgfsTer4
NM_001142766.1:c.4547_4548dup	NP_001136238.1:p.Asp1517ArgfsTer4
NM_001142767.1:c.4436_4437dup	NP_001136239.1:p.Asp1480ArgfsTer4
NM_001142768.1:c.4496_4497dup	NP_001136240.1:p.Asp1500ArgfsTer4
NM_001142769.1:c.4409+1966_4409+1967dup	NP_001136241.1:n.4409+1966_4409+1967dup
NM_001142770.1:c.4373+1966_4373+1967dup	NP_001136242.1:n.4373+1966_4373+1967dup
NM_001142771.1:c.4388+1966_4388+1967dup	NP_001136243.1:n.4388+1966_4388+1967dup
NM_001142772.1:c.4373+1966_4373+1967dup	NP_001136244.1:n.4373+1966_4373+1967dup
NM_001142773.1:c.4487_4488dup	NP_001136245.1:p.Asp1497ArgfsTer4
NM_033056.3:c.4556_4557dup	NP_149045.3:p.Asp1520ArgfsTer4
NM_001142769.2:c.4409+1966_4409+1967dup	NP_001136241.1:n.4409+1966_4409+1967dup
NM_001142770.2:c.4373+1966_4373+1967dup	NP_001136242.1:n.4373+1966_4373+1967dup
NM_001354404.1:c.4490_4491dup	NP_001341333.1:p.Asp1498ArgfsTer4
NM_001354411.1:c.4388+4223_4388+4224dup	NP_001341340.1:n.4388+4223_4388+4224dup
NM_001354420.1:c.4367+4223_4367+4224dup	NP_001341349.1:n.4367+4223_4367+4224dup
NM_001354429.1:c.4367+4223_4367+4224dup	NP_001341358.1:n.4367+4223_4367+4224dup
XM_017016573.2:c.4388+1966_4388+1967dup	XP_016872062.1:n.4388+1966_4388+1967dup
XR_001747192.2:n.5569_5570dup
XR_001747193.2:n.5560_5561dup
NM_001142763.2:c.4577_4578dup	NP_001136235.1:p.Asp1527ArgfsTer4
NM_001142764.2:c.4562_4563dup	NP_001136236.1:p.Asp1522ArgfsTer4
NM_001142765.2:c.4349_4350dup	NP_001136237.1:p.Asp1451ArgfsTer4
NM_001142766.2:c.4547_4548dup	NP_001136238.1:p.Asp1517ArgfsTer4
NM_001142768.2:c.4496_4497dup	NP_001136240.1:p.Asp1500ArgfsTer4
NM_001142769.3:c.4409+1966_4409+1967dup	NP_001136241.1:n.4409+1966_4409+1967dup
NM_001142770.3:c.4373+1966_4373+1967dup	NP_001136242.1:n.4373+1966_4373+1967dup
NM_001142771.2:c.4388+1966_4388+1967dup	NP_001136243.1:n.4388+1966_4388+1967dup
NM_001142772.2:c.4373+1966_4373+1967dup	NP_001136244.1:n.4373+1966_4373+1967dup
NM_001142773.2:c.4487_4488dup	NP_001136245.1:p.Asp1497ArgfsTer4
NM_001354411.2:c.4388+4223_4388+4224dup	NP_001341340.1:n.4388+4223_4388+4224dup
NM_001354420.2:c.4367+4223_4367+4224dup	NP_001341349.1:n.4367+4223_4367+4224dup
NM_001354429.2:c.4367+4223_4367+4224dup	NP_001341358.1:n.4367+4223_4367+4224dup
NM_033056.4:c.4556_4557dup MANE Plus Clinical	NP_149045.3:p.Asp1520ArgfsTer4
NM_001142767.2:c.4436_4437dup	NP_001136239.1:p.Asp1480ArgfsTer4
NM_001354404.2:c.4490_4491dup	NP_001341333.1:p.Asp1498ArgfsTer4
NM_001384140.1:c.4368-2940_4368-2939dup MANE Select	NP_001371069.1:n.4368-2940_4368-2939dup