Canonical Allele Identifier: CA5505111

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822547C>T , CM000672.2:g.53822547C>T	GRCh38
NC_000010.10:g.55582307C>T , CM000672.1:g.55582307C>T	GRCh37
NC_000010.9:g.55252313C>T	NCBI36
NG_009191.2:g.983745G>A
NG_009191.3:g.1811636G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384140.1:c.4368-2317G>A MANE Select	NP_001371069.1:n.4368-2317G>A
ENST00000644397.2:c.4368-2317G>A MANE Select	ENSP00000495195.1:n.4368-2317G>A
NM_033056.4:c.5179G>A MANE Plus Clinical	NP_149045.3:p.Glu1727Lys
ENST00000320301.11:c.5179G>A MANE Plus Clinical	ENSP00000322604.6:p.Glu1727Lys
NM_001142763.1:c.5200G>A	NP_001136235.1:p.Glu1734Lys
NM_001142763.2:c.5200G>A	NP_001136235.1:p.Glu1734Lys
NM_001142764.1:c.5185G>A	NP_001136236.1:p.Glu1729Lys
NM_001142764.2:c.5185G>A	NP_001136236.1:p.Glu1729Lys
NM_001142765.1:c.4972G>A	NP_001136237.1:p.Glu1658Lys
NM_001142765.2:c.4972G>A	NP_001136237.1:p.Glu1658Lys
NM_001142766.1:c.5170G>A	NP_001136238.1:p.Glu1724Lys
NM_001142766.2:c.5170G>A	NP_001136238.1:p.Glu1724Lys
NM_001142767.1:c.5059G>A	NP_001136239.1:p.Glu1687Lys
NM_001142767.2:c.5059G>A	NP_001136239.1:p.Glu1687Lys
NM_001142768.1:c.5119G>A	NP_001136240.1:p.Glu1707Lys
NM_001142768.2:c.5119G>A	NP_001136240.1:p.Glu1707Lys
NM_001142769.1:c.4409+2589G>A	NP_001136241.1:n.4409+2589G>A
NM_001142769.2:c.4409+2589G>A	NP_001136241.1:n.4409+2589G>A
NM_001142769.3:c.4409+2589G>A	NP_001136241.1:n.4409+2589G>A
NM_001142770.1:c.4373+2589G>A	NP_001136242.1:n.4373+2589G>A
NM_001142770.2:c.4373+2589G>A	NP_001136242.1:n.4373+2589G>A
NM_001142770.3:c.4373+2589G>A	NP_001136242.1:n.4373+2589G>A
NM_001142771.1:c.4388+2589G>A	NP_001136243.1:n.4388+2589G>A
NM_001142771.2:c.4388+2589G>A	NP_001136243.1:n.4388+2589G>A
NM_001142772.1:c.4373+2589G>A	NP_001136244.1:n.4373+2589G>A
NM_001142772.2:c.4373+2589G>A	NP_001136244.1:n.4373+2589G>A
NM_001142773.1:c.5110G>A	NP_001136245.1:p.Glu1704Lys
NM_001142773.2:c.5110G>A	NP_001136245.1:p.Glu1704Lys
NM_001354404.1:c.5113G>A	NP_001341333.1:p.Glu1705Lys
NM_001354404.2:c.5113G>A	NP_001341333.1:p.Glu1705Lys
NM_001354411.1:c.4388+4846G>A	NP_001341340.1:n.4388+4846G>A
NM_001354411.2:c.4388+4846G>A	NP_001341340.1:n.4388+4846G>A
NM_001354420.1:c.4367+4846G>A	NP_001341349.1:n.4367+4846G>A
NM_001354420.2:c.4367+4846G>A	NP_001341349.1:n.4367+4846G>A
NM_001354429.1:c.4368-4534G>A	NP_001341358.1:n.4368-4534G>A
NM_001354429.2:c.4368-4534G>A	NP_001341358.1:n.4368-4534G>A
NM_033056.3:c.5179G>A	NP_149045.3:p.Glu1727Lys
ENST00000320301.10:c.5179G>A	ENSP00000322604.6:p.Glu1727Lys
ENST00000361849.7:c.5185G>A	ENSP00000354950.3:p.Glu1729Lys
ENST00000373956.7:c.*3134G>A	ENSP00000363067.4:n.*3134G>A
ENST00000373957.7:c.5200G>A	ENSP00000363068.4:p.Glu1734Lys
ENST00000373965.6:c.4373+2589G>A	ENSP00000363076.3:n.4373+2589G>A
ENST00000395430.5:c.5170G>A	ENSP00000378818.1:p.Glu1724Lys
ENST00000395432.6:c.5059G>A	ENSP00000378820.2:p.Glu1687Lys
ENST00000395433.5:c.5110G>A	ENSP00000378821.1:p.Glu1704Lys
ENST00000395438.5:c.4371+4845G>A	ENSP00000378826.2:n.4371+4845G>A
ENST00000395440.5:c.1306-13001G>A	ENSP00000378827.1:n.1306-13001G>A
ENST00000395442.5:c.1099-13001G>A	ENSP00000378829.1:n.1099-13001G>A
ENST00000395445.5:c.4388+4846G>A	ENSP00000378832.2:n.4388+4846G>A
ENST00000395445.6:c.4388+4846G>A	ENSP00000378832.2:n.4388+4846G>A
ENST00000395446.5:c.2092-13001G>A	ENSP00000378833.1:n.2092-13001G>A
ENST00000409834.5:c.3206+2589G>A	ENSP00000386693.1:n.3206+2589G>A
ENST00000414367.5:c.*447+4846G>A	ENSP00000412531.1:n.*447+4846G>A
ENST00000414778.5:c.4370+4846G>A	ENSP00000410304.2:n.4370+4846G>A
ENST00000437009.5:c.4972G>A	ENSP00000412628.2:p.Glu1658Lys
ENST00000448885.5:c.*3140G>A	ENSP00000412320.1:n.*3140G>A
ENST00000463095.2:n.2198G>A
ENST00000495484.5:c.462-4534G>A	ENSP00000480780.1:n.462-4534G>A
ENST00000612394.4:c.4406+4846G>A	ENSP00000482921.1:n.4406+4846G>A
ENST00000613657.4:c.4409+2589G>A	ENSP00000482794.1:n.4409+2589G>A
ENST00000613657.5:c.4409+2589G>A	ENSP00000482794.1:n.4409+2589G>A
ENST00000613657.6:c.4409+2589G>A	ENSP00000482794.1:n.4409+2589G>A
ENST00000614895.4:c.4385+4846G>A	ENSP00000478512.1:n.4385+4846G>A
ENST00000616114.4:c.4367+4846G>A	ENSP00000483745.1:n.4367+4846G>A
ENST00000617051.4:c.5206G>A	ENSP00000484703.1:p.Glu1736Lys
ENST00000617271.4:c.4373+2589G>A	ENSP00000478076.1:n.4373+2589G>A
ENST00000618301.4:c.594-4534G>A	ENSP00000482780.1:n.594-4534G>A
ENST00000621708.4:c.4388+2589G>A	ENSP00000484454.1:n.4388+2589G>A
ENST00000622048.4:c.4978G>A	ENSP00000482329.1:p.Glu1660Lys
ENST00000642496.1:c.3227-2317G>A
XM_017016573.2:c.4388+2589G>A	XP_016872062.1:n.4388+2589G>A
XR_001747192.2:n.6192G>A
XR_001747193.2:n.6183G>A