Canonical Allele Identifier: CA1910737744

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822208_53822210delinsACT , CM000672.2:g.53822208_53822210delinsACT	GRCh38
NC_000010.10:g.55581968_55581970delinsACT , CM000672.1:g.55581968_55581970delinsACT	GRCh37
NC_000010.9:g.55251974_55251976delinsACT	NCBI36
NG_009191.2:g.984082_984084delinsAGT
NG_009191.3:g.1811973_1811975delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2926_4409+2928delinsAGT	ENSP00000482794.1:n.4409+2926_4409+2928delinsAGT
ENST00000320301.11:c.5516_5518delinsAGT MANE Plus Clinical	ENSP00000322604.6:p.Glu1839=
ENST00000395445.6:c.4388+5183_4388+5185delinsAGT	ENSP00000378832.2:n.4388+5183_4388+5185delinsAGT
ENST00000613657.5:c.4409+2926_4409+2928delinsAGT	ENSP00000482794.1:n.4409+2926_4409+2928delinsAGT
ENST00000642496.1:c.3227-1980_3227-1978delinsAGT
ENST00000644397.2:c.4368-1980_4368-1978delinsAGT MANE Select	ENSP00000495195.1:n.4368-1980_4368-1978delinsAGT
ENST00000320301.10:c.5516_5518delinsAGT	ENSP00000322604.6:p.Glu1839=
ENST00000361849.7:c.5522_5524delinsAGT	ENSP00000354950.3:p.Glu1841=
ENST00000373956.7:c.*3471_*3473delinsAGT	ENSP00000363067.4:n.*3471_*3473delinsAGT
ENST00000373957.7:c.5537_5539delinsAGT	ENSP00000363068.4:p.Glu1846=
ENST00000373965.6:c.4373+2926_4373+2928delinsAGT	ENSP00000363076.3:n.4373+2926_4373+2928delinsAGT
ENST00000395430.5:c.5507_5509delinsAGT	ENSP00000378818.1:p.Glu1836=
ENST00000395432.6:c.5396_5398delinsAGT	ENSP00000378820.2:p.Glu1799=
ENST00000395433.5:c.5447_5449delinsAGT	ENSP00000378821.1:p.Glu1816=
ENST00000395438.5:c.4371+5182_4371+5184delinsAGT	ENSP00000378826.2:n.4371+5182_4371+5184delinsAGT
ENST00000395440.5:c.1306-12664_1306-12662delinsAGT	ENSP00000378827.1:n.1306-12664_1306-12662delinsAGT
ENST00000395442.5:c.1099-12664_1099-12662delinsAGT	ENSP00000378829.1:n.1099-12664_1099-12662delinsAGT
ENST00000395445.5:c.4388+5183_4388+5185delinsAGT	ENSP00000378832.2:n.4388+5183_4388+5185delinsAGT
ENST00000395446.5:c.2092-12664_2092-12662delinsAGT	ENSP00000378833.1:n.2092-12664_2092-12662delinsAGT
ENST00000409834.5:c.3206+2926_3206+2928delinsAGT	ENSP00000386693.1:n.3206+2926_3206+2928delinsAGT
ENST00000414367.5:c.*447+5183_*447+5185delinsAGT	ENSP00000412531.1:n.*447+5183_*447+5185delinsAGT
ENST00000414778.5:c.4370+5183_4370+5185delinsAGT	ENSP00000410304.2:n.4370+5183_4370+5185delinsAGT
ENST00000437009.5:c.5309_5311delinsAGT	ENSP00000412628.2:p.Glu1770=
ENST00000448885.5:c.*3477_*3479delinsAGT	ENSP00000412320.1:n.*3477_*3479delinsAGT
ENST00000463095.2:n.2535_2537delinsAGT
ENST00000495484.5:c.462-4197_462-4195delinsAGT	ENSP00000480780.1:n.462-4197_462-4195delinsAGT
ENST00000612394.4:c.4406+5183_4406+5185delinsAGT	ENSP00000482921.1:n.4406+5183_4406+5185delinsAGT
ENST00000613657.4:c.4409+2926_4409+2928delinsAGT	ENSP00000482794.1:n.4409+2926_4409+2928delinsAGT
ENST00000614895.4:c.4385+5183_4385+5185delinsAGT	ENSP00000478512.1:n.4385+5183_4385+5185delinsAGT
ENST00000616114.4:c.4367+5183_4367+5185delinsAGT	ENSP00000483745.1:n.4367+5183_4367+5185delinsAGT
ENST00000617051.4:c.5543_5545delinsAGT	ENSP00000484703.1:p.Glu1848=
ENST00000617271.4:c.4373+2926_4373+2928delinsAGT	ENSP00000478076.1:n.4373+2926_4373+2928delinsAGT
ENST00000618301.4:c.594-4197_594-4195delinsAGT	ENSP00000482780.1:n.594-4197_594-4195delinsAGT
ENST00000621708.4:c.4388+2926_4388+2928delinsAGT	ENSP00000484454.1:n.4388+2926_4388+2928delinsAGT
ENST00000622048.4:c.5315_5317delinsAGT	ENSP00000482329.1:p.Glu1772=
NM_001142763.1:c.5537_5539delinsAGT	NP_001136235.1:p.Glu1846=
NM_001142764.1:c.5522_5524delinsAGT	NP_001136236.1:p.Glu1841=
NM_001142765.1:c.5309_5311delinsAGT	NP_001136237.1:p.Glu1770=
NM_001142766.1:c.5507_5509delinsAGT	NP_001136238.1:p.Glu1836=
NM_001142767.1:c.5396_5398delinsAGT	NP_001136239.1:p.Glu1799=
NM_001142768.1:c.5456_5458delinsAGT	NP_001136240.1:p.Glu1819=
NM_001142769.1:c.4409+2926_4409+2928delinsAGT	NP_001136241.1:n.4409+2926_4409+2928delinsAGT
NM_001142770.1:c.4373+2926_4373+2928delinsAGT	NP_001136242.1:n.4373+2926_4373+2928delinsAGT
NM_001142771.1:c.4388+2926_4388+2928delinsAGT	NP_001136243.1:n.4388+2926_4388+2928delinsAGT
NM_001142772.1:c.4373+2926_4373+2928delinsAGT	NP_001136244.1:n.4373+2926_4373+2928delinsAGT
NM_001142773.1:c.5447_5449delinsAGT	NP_001136245.1:p.Glu1816=
NM_033056.3:c.5516_5518delinsAGT	NP_149045.3:p.Glu1839=
NM_001142769.2:c.4409+2926_4409+2928delinsAGT	NP_001136241.1:n.4409+2926_4409+2928delinsAGT
NM_001142770.2:c.4373+2926_4373+2928delinsAGT	NP_001136242.1:n.4373+2926_4373+2928delinsAGT
NM_001354404.1:c.5450_5452delinsAGT	NP_001341333.1:p.Glu1817=
NM_001354411.1:c.4388+5183_4388+5185delinsAGT	NP_001341340.1:n.4388+5183_4388+5185delinsAGT
NM_001354420.1:c.4367+5183_4367+5185delinsAGT	NP_001341349.1:n.4367+5183_4367+5185delinsAGT
NM_001354429.1:c.4368-4197_4368-4195delinsAGT	NP_001341358.1:n.4368-4197_4368-4195delinsAGT
XM_017016573.2:c.4388+2926_4388+2928delinsAGT	XP_016872062.1:n.4388+2926_4388+2928delinsAGT
XR_001747192.2:n.6529_6531delinsAGT
XR_001747193.2:n.6520_6522delinsAGT
NM_001142763.2:c.5537_5539delinsAGT	NP_001136235.1:p.Glu1846=
NM_001142764.2:c.5522_5524delinsAGT	NP_001136236.1:p.Glu1841=
NM_001142765.2:c.5309_5311delinsAGT	NP_001136237.1:p.Glu1770=
NM_001142766.2:c.5507_5509delinsAGT	NP_001136238.1:p.Glu1836=
NM_001142768.2:c.5456_5458delinsAGT	NP_001136240.1:p.Glu1819=
NM_001142769.3:c.4409+2926_4409+2928delinsAGT	NP_001136241.1:n.4409+2926_4409+2928delinsAGT
NM_001142770.3:c.4373+2926_4373+2928delinsAGT	NP_001136242.1:n.4373+2926_4373+2928delinsAGT
NM_001142771.2:c.4388+2926_4388+2928delinsAGT	NP_001136243.1:n.4388+2926_4388+2928delinsAGT
NM_001142772.2:c.4373+2926_4373+2928delinsAGT	NP_001136244.1:n.4373+2926_4373+2928delinsAGT
NM_001142773.2:c.5447_5449delinsAGT	NP_001136245.1:p.Glu1816=
NM_001354411.2:c.4388+5183_4388+5185delinsAGT	NP_001341340.1:n.4388+5183_4388+5185delinsAGT
NM_001354420.2:c.4367+5183_4367+5185delinsAGT	NP_001341349.1:n.4367+5183_4367+5185delinsAGT
NM_001354429.2:c.4368-4197_4368-4195delinsAGT	NP_001341358.1:n.4368-4197_4368-4195delinsAGT
NM_033056.4:c.5516_5518delinsAGT MANE Plus Clinical	NP_149045.3:p.Glu1839=
NM_001142767.2:c.5396_5398delinsAGT	NP_001136239.1:p.Glu1799=
NM_001354404.2:c.5450_5452delinsAGT	NP_001341333.1:p.Glu1817=
NM_001384140.1:c.4368-1980_4368-1978delinsAGT MANE Select	NP_001371069.1:n.4368-1980_4368-1978delinsAGT