Canonical Allele Identifier: CA1910738787

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822429_53822432delinsGCAA , CM000672.2:g.53822429_53822432delinsGCAA	GRCh38
NC_000010.10:g.55582189_55582192delinsGCAA , CM000672.1:g.55582189_55582192delinsGCAA	GRCh37
NC_000010.9:g.55252195_55252198delinsGCAA	NCBI36
NG_009191.2:g.983860_983863delinsTTGC
NG_009191.3:g.1811751_1811754delinsTTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4409+2704_4409+2707delinsTTGC	ENSP00000482794.1:n.4409+2704_4409+2707delinsTTGC
ENST00000320301.11:c.5294_5297delinsTTGC MANE Plus Clinical	ENSP00000322604.6:p.Leu1765=
ENST00000395445.6:c.4388+4961_4388+4964delinsTTGC	ENSP00000378832.2:n.4388+4961_4388+4964delinsTTGC
ENST00000613657.5:c.4409+2704_4409+2707delinsTTGC	ENSP00000482794.1:n.4409+2704_4409+2707delinsTTGC
ENST00000642496.1:c.3227-2202_3227-2199delinsTTGC
ENST00000644397.2:c.4368-2202_4368-2199delinsTTGC MANE Select	ENSP00000495195.1:n.4368-2202_4368-2199delinsTTGC
ENST00000320301.10:c.5294_5297delinsTTGC	ENSP00000322604.6:p.Leu1765=
ENST00000361849.7:c.5300_5303delinsTTGC	ENSP00000354950.3:p.Leu1767=
ENST00000373956.7:c.*3249_*3252delinsTTGC	ENSP00000363067.4:n.*3249_*3252delinsTTGC
ENST00000373957.7:c.5315_5318delinsTTGC	ENSP00000363068.4:p.Leu1772=
ENST00000373965.6:c.4373+2704_4373+2707delinsTTGC	ENSP00000363076.3:n.4373+2704_4373+2707delinsTTGC
ENST00000395430.5:c.5285_5288delinsTTGC	ENSP00000378818.1:p.Leu1762=
ENST00000395432.6:c.5174_5177delinsTTGC	ENSP00000378820.2:p.Leu1725=
ENST00000395433.5:c.5225_5228delinsTTGC	ENSP00000378821.1:p.Leu1742=
ENST00000395438.5:c.4371+4960_4371+4963delinsTTGC	ENSP00000378826.2:n.4371+4960_4371+4963delinsTTGC
ENST00000395440.5:c.1306-12886_1306-12883delinsTTGC	ENSP00000378827.1:n.1306-12886_1306-12883delinsTTGC
ENST00000395442.5:c.1099-12886_1099-12883delinsTTGC	ENSP00000378829.1:n.1099-12886_1099-12883delinsTTGC
ENST00000395445.5:c.4388+4961_4388+4964delinsTTGC	ENSP00000378832.2:n.4388+4961_4388+4964delinsTTGC
ENST00000395446.5:c.2092-12886_2092-12883delinsTTGC	ENSP00000378833.1:n.2092-12886_2092-12883delinsTTGC
ENST00000409834.5:c.3206+2704_3206+2707delinsTTGC	ENSP00000386693.1:n.3206+2704_3206+2707delinsTTGC
ENST00000414367.5:c.*447+4961_*447+4964delinsTTGC	ENSP00000412531.1:n.*447+4961_*447+4964delinsTTGC
ENST00000414778.5:c.4370+4961_4370+4964delinsTTGC	ENSP00000410304.2:n.4370+4961_4370+4964delinsTTGC
ENST00000437009.5:c.5087_5090delinsTTGC	ENSP00000412628.2:p.Leu1696=
ENST00000448885.5:c.*3255_*3258delinsTTGC	ENSP00000412320.1:n.*3255_*3258delinsTTGC
ENST00000463095.2:n.2313_2316delinsTTGC
ENST00000495484.5:c.462-4419_462-4416delinsTTGC	ENSP00000480780.1:n.462-4419_462-4416delinsTTGC
ENST00000612394.4:c.4406+4961_4406+4964delinsTTGC	ENSP00000482921.1:n.4406+4961_4406+4964delinsTTGC
ENST00000613657.4:c.4409+2704_4409+2707delinsTTGC	ENSP00000482794.1:n.4409+2704_4409+2707delinsTTGC
ENST00000614895.4:c.4385+4961_4385+4964delinsTTGC	ENSP00000478512.1:n.4385+4961_4385+4964delinsTTGC
ENST00000616114.4:c.4367+4961_4367+4964delinsTTGC	ENSP00000483745.1:n.4367+4961_4367+4964delinsTTGC
ENST00000617051.4:c.5321_5324delinsTTGC	ENSP00000484703.1:p.Leu1774=
ENST00000617271.4:c.4373+2704_4373+2707delinsTTGC	ENSP00000478076.1:n.4373+2704_4373+2707delinsTTGC
ENST00000618301.4:c.594-4419_594-4416delinsTTGC	ENSP00000482780.1:n.594-4419_594-4416delinsTTGC
ENST00000621708.4:c.4388+2704_4388+2707delinsTTGC	ENSP00000484454.1:n.4388+2704_4388+2707delinsTTGC
ENST00000622048.4:c.5093_5096delinsTTGC	ENSP00000482329.1:p.Leu1698=
NM_001142763.1:c.5315_5318delinsTTGC	NP_001136235.1:p.Leu1772=
NM_001142764.1:c.5300_5303delinsTTGC	NP_001136236.1:p.Leu1767=
NM_001142765.1:c.5087_5090delinsTTGC	NP_001136237.1:p.Leu1696=
NM_001142766.1:c.5285_5288delinsTTGC	NP_001136238.1:p.Leu1762=
NM_001142767.1:c.5174_5177delinsTTGC	NP_001136239.1:p.Leu1725=
NM_001142768.1:c.5234_5237delinsTTGC	NP_001136240.1:p.Leu1745=
NM_001142769.1:c.4409+2704_4409+2707delinsTTGC	NP_001136241.1:n.4409+2704_4409+2707delinsTTGC
NM_001142770.1:c.4373+2704_4373+2707delinsTTGC	NP_001136242.1:n.4373+2704_4373+2707delinsTTGC
NM_001142771.1:c.4388+2704_4388+2707delinsTTGC	NP_001136243.1:n.4388+2704_4388+2707delinsTTGC
NM_001142772.1:c.4373+2704_4373+2707delinsTTGC	NP_001136244.1:n.4373+2704_4373+2707delinsTTGC
NM_001142773.1:c.5225_5228delinsTTGC	NP_001136245.1:p.Leu1742=
NM_033056.3:c.5294_5297delinsTTGC	NP_149045.3:p.Leu1765=
NM_001142769.2:c.4409+2704_4409+2707delinsTTGC	NP_001136241.1:n.4409+2704_4409+2707delinsTTGC
NM_001142770.2:c.4373+2704_4373+2707delinsTTGC	NP_001136242.1:n.4373+2704_4373+2707delinsTTGC
NM_001354404.1:c.5228_5231delinsTTGC	NP_001341333.1:p.Leu1743=
NM_001354411.1:c.4388+4961_4388+4964delinsTTGC	NP_001341340.1:n.4388+4961_4388+4964delinsTTGC
NM_001354420.1:c.4367+4961_4367+4964delinsTTGC	NP_001341349.1:n.4367+4961_4367+4964delinsTTGC
NM_001354429.1:c.4368-4419_4368-4416delinsTTGC	NP_001341358.1:n.4368-4419_4368-4416delinsTTGC
XM_017016573.2:c.4388+2704_4388+2707delinsTTGC	XP_016872062.1:n.4388+2704_4388+2707delinsTTGC
XR_001747192.2:n.6307_6310delinsTTGC
XR_001747193.2:n.6298_6301delinsTTGC
NM_001142763.2:c.5315_5318delinsTTGC	NP_001136235.1:p.Leu1772=
NM_001142764.2:c.5300_5303delinsTTGC	NP_001136236.1:p.Leu1767=
NM_001142765.2:c.5087_5090delinsTTGC	NP_001136237.1:p.Leu1696=
NM_001142766.2:c.5285_5288delinsTTGC	NP_001136238.1:p.Leu1762=
NM_001142768.2:c.5234_5237delinsTTGC	NP_001136240.1:p.Leu1745=
NM_001142769.3:c.4409+2704_4409+2707delinsTTGC	NP_001136241.1:n.4409+2704_4409+2707delinsTTGC
NM_001142770.3:c.4373+2704_4373+2707delinsTTGC	NP_001136242.1:n.4373+2704_4373+2707delinsTTGC
NM_001142771.2:c.4388+2704_4388+2707delinsTTGC	NP_001136243.1:n.4388+2704_4388+2707delinsTTGC
NM_001142772.2:c.4373+2704_4373+2707delinsTTGC	NP_001136244.1:n.4373+2704_4373+2707delinsTTGC
NM_001142773.2:c.5225_5228delinsTTGC	NP_001136245.1:p.Leu1742=
NM_001354411.2:c.4388+4961_4388+4964delinsTTGC	NP_001341340.1:n.4388+4961_4388+4964delinsTTGC
NM_001354420.2:c.4367+4961_4367+4964delinsTTGC	NP_001341349.1:n.4367+4961_4367+4964delinsTTGC
NM_001354429.2:c.4368-4419_4368-4416delinsTTGC	NP_001341358.1:n.4368-4419_4368-4416delinsTTGC
NM_033056.4:c.5294_5297delinsTTGC MANE Plus Clinical	NP_149045.3:p.Leu1765=
NM_001142767.2:c.5174_5177delinsTTGC	NP_001136239.1:p.Leu1725=
NM_001354404.2:c.5228_5231delinsTTGC	NP_001341333.1:p.Leu1743=
NM_001384140.1:c.4368-2202_4368-2199delinsTTGC MANE Select	NP_001371069.1:n.4368-2202_4368-2199delinsTTGC