Canonical Allele Identifier: CA2788035300

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822307_53822308insACA , CM000672.2:g.53822307_53822308insACA	GRCh38
NC_000010.10:g.55582067_55582068insACA , CM000672.1:g.55582067_55582068insACA	GRCh37
NC_000010.9:g.55252073_55252074insACA	NCBI36
NG_009191.2:g.983984_983985insTGT
NG_009191.3:g.1811875_1811876insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2828_4409+2829insTGT	ENSP00000482794.1:n.4409+2828_4409+2829insTGT
ENST00000320301.11:c.5418_5419insTGT MANE Plus Clinical	ENSP00000322604.6:p.Pro1806_Thr1807insCys
ENST00000395445.6:c.4388+5085_4388+5086insTGT	ENSP00000378832.2:n.4388+5085_4388+5086insTGT
ENST00000613657.5:c.4409+2828_4409+2829insTGT	ENSP00000482794.1:n.4409+2828_4409+2829insTGT
ENST00000642496.1:c.3227-2078_3227-2077insTGT
ENST00000644397.2:c.4368-2078_4368-2077insTGT MANE Select	ENSP00000495195.1:n.4368-2078_4368-2077insTGT
ENST00000320301.10:c.5418_5419insTGT	ENSP00000322604.6:p.Pro1806_Thr1807insCys
ENST00000361849.7:c.5424_5425insTGT	ENSP00000354950.3:p.Pro1808_Thr1809insCys
ENST00000373956.7:c.*3373_*3374insTGT	ENSP00000363067.4:n.*3373_*3374insTGT
ENST00000373957.7:c.5439_5440insTGT	ENSP00000363068.4:p.Pro1813_Thr1814insCys
ENST00000373965.6:c.4373+2828_4373+2829insTGT	ENSP00000363076.3:n.4373+2828_4373+2829insTGT
ENST00000395430.5:c.5409_5410insTGT	ENSP00000378818.1:p.Pro1803_Thr1804insCys
ENST00000395432.6:c.5298_5299insTGT	ENSP00000378820.2:p.Pro1766_Thr1767insCys
ENST00000395433.5:c.5349_5350insTGT	ENSP00000378821.1:p.Pro1783_Thr1784insCys
ENST00000395438.5:c.4371+5084_4371+5085insTGT	ENSP00000378826.2:n.4371+5084_4371+5085insTGT
ENST00000395440.5:c.1306-12762_1306-12761insTGT	ENSP00000378827.1:n.1306-12762_1306-12761insTGT
ENST00000395442.5:c.1099-12762_1099-12761insTGT	ENSP00000378829.1:n.1099-12762_1099-12761insTGT
ENST00000395445.5:c.4388+5085_4388+5086insTGT	ENSP00000378832.2:n.4388+5085_4388+5086insTGT
ENST00000395446.5:c.2092-12762_2092-12761insTGT	ENSP00000378833.1:n.2092-12762_2092-12761insTGT
ENST00000409834.5:c.3206+2828_3206+2829insTGT	ENSP00000386693.1:n.3206+2828_3206+2829insTGT
ENST00000414367.5:c.*447+5085_*447+5086insTGT	ENSP00000412531.1:n.*447+5085_*447+5086insTGT
ENST00000414778.5:c.4370+5085_4370+5086insTGT	ENSP00000410304.2:n.4370+5085_4370+5086insTGT
ENST00000437009.5:c.5211_5212insTGT	ENSP00000412628.2:p.Pro1737_Thr1738insCys
ENST00000448885.5:c.*3379_*3380insTGT	ENSP00000412320.1:n.*3379_*3380insTGT
ENST00000463095.2:n.2437_2438insTGT
ENST00000495484.5:c.462-4295_462-4294insTGT	ENSP00000480780.1:n.462-4295_462-4294insTGT
ENST00000612394.4:c.4406+5085_4406+5086insTGT	ENSP00000482921.1:n.4406+5085_4406+5086insTGT
ENST00000613657.4:c.4409+2828_4409+2829insTGT	ENSP00000482794.1:n.4409+2828_4409+2829insTGT
ENST00000614895.4:c.4385+5085_4385+5086insTGT	ENSP00000478512.1:n.4385+5085_4385+5086insTGT
ENST00000616114.4:c.4367+5085_4367+5086insTGT	ENSP00000483745.1:n.4367+5085_4367+5086insTGT
ENST00000617051.4:c.5445_5446insTGT	ENSP00000484703.1:p.Pro1815_Thr1816insCys
ENST00000617271.4:c.4373+2828_4373+2829insTGT	ENSP00000478076.1:n.4373+2828_4373+2829insTGT
ENST00000618301.4:c.594-4295_594-4294insTGT	ENSP00000482780.1:n.594-4295_594-4294insTGT
ENST00000621708.4:c.4388+2828_4388+2829insTGT	ENSP00000484454.1:n.4388+2828_4388+2829insTGT
ENST00000622048.4:c.5217_5218insTGT	ENSP00000482329.1:p.Pro1739_Thr1740insCys
NM_001142763.1:c.5439_5440insTGT	NP_001136235.1:p.Pro1813_Thr1814insCys
NM_001142764.1:c.5424_5425insTGT	NP_001136236.1:p.Pro1808_Thr1809insCys
NM_001142765.1:c.5211_5212insTGT	NP_001136237.1:p.Pro1737_Thr1738insCys
NM_001142766.1:c.5409_5410insTGT	NP_001136238.1:p.Pro1803_Thr1804insCys
NM_001142767.1:c.5298_5299insTGT	NP_001136239.1:p.Pro1766_Thr1767insCys
NM_001142768.1:c.5358_5359insTGT	NP_001136240.1:p.Pro1786_Thr1787insCys
NM_001142769.1:c.4409+2828_4409+2829insTGT	NP_001136241.1:n.4409+2828_4409+2829insTGT
NM_001142770.1:c.4373+2828_4373+2829insTGT	NP_001136242.1:n.4373+2828_4373+2829insTGT
NM_001142771.1:c.4388+2828_4388+2829insTGT	NP_001136243.1:n.4388+2828_4388+2829insTGT
NM_001142772.1:c.4373+2828_4373+2829insTGT	NP_001136244.1:n.4373+2828_4373+2829insTGT
NM_001142773.1:c.5349_5350insTGT	NP_001136245.1:p.Pro1783_Thr1784insCys
NM_033056.3:c.5418_5419insTGT	NP_149045.3:p.Pro1806_Thr1807insCys
NM_001142769.2:c.4409+2828_4409+2829insTGT	NP_001136241.1:n.4409+2828_4409+2829insTGT
NM_001142770.2:c.4373+2828_4373+2829insTGT	NP_001136242.1:n.4373+2828_4373+2829insTGT
NM_001354404.1:c.5352_5353insTGT	NP_001341333.1:p.Pro1784_Thr1785insCys
NM_001354411.1:c.4388+5085_4388+5086insTGT	NP_001341340.1:n.4388+5085_4388+5086insTGT
NM_001354420.1:c.4367+5085_4367+5086insTGT	NP_001341349.1:n.4367+5085_4367+5086insTGT
NM_001354429.1:c.4368-4295_4368-4294insTGT	NP_001341358.1:n.4368-4295_4368-4294insTGT
XM_017016573.2:c.4388+2828_4388+2829insTGT	XP_016872062.1:n.4388+2828_4388+2829insTGT
XR_001747192.2:n.6431_6432insTGT
XR_001747193.2:n.6422_6423insTGT
NM_001142763.2:c.5439_5440insTGT	NP_001136235.1:p.Pro1813_Thr1814insCys
NM_001142764.2:c.5424_5425insTGT	NP_001136236.1:p.Pro1808_Thr1809insCys
NM_001142765.2:c.5211_5212insTGT	NP_001136237.1:p.Pro1737_Thr1738insCys
NM_001142766.2:c.5409_5410insTGT	NP_001136238.1:p.Pro1803_Thr1804insCys
NM_001142768.2:c.5358_5359insTGT	NP_001136240.1:p.Pro1786_Thr1787insCys
NM_001142769.3:c.4409+2828_4409+2829insTGT	NP_001136241.1:n.4409+2828_4409+2829insTGT
NM_001142770.3:c.4373+2828_4373+2829insTGT	NP_001136242.1:n.4373+2828_4373+2829insTGT
NM_001142771.2:c.4388+2828_4388+2829insTGT	NP_001136243.1:n.4388+2828_4388+2829insTGT
NM_001142772.2:c.4373+2828_4373+2829insTGT	NP_001136244.1:n.4373+2828_4373+2829insTGT
NM_001142773.2:c.5349_5350insTGT	NP_001136245.1:p.Pro1783_Thr1784insCys
NM_001354411.2:c.4388+5085_4388+5086insTGT	NP_001341340.1:n.4388+5085_4388+5086insTGT
NM_001354420.2:c.4367+5085_4367+5086insTGT	NP_001341349.1:n.4367+5085_4367+5086insTGT
NM_001354429.2:c.4368-4295_4368-4294insTGT	NP_001341358.1:n.4368-4295_4368-4294insTGT
NM_033056.4:c.5418_5419insTGT MANE Plus Clinical	NP_149045.3:p.Pro1806_Thr1807insCys
NM_001142767.2:c.5298_5299insTGT	NP_001136239.1:p.Pro1766_Thr1767insCys
NM_001354404.2:c.5352_5353insTGT	NP_001341333.1:p.Pro1784_Thr1785insCys
NM_001384140.1:c.4368-2078_4368-2077insTGT MANE Select	NP_001371069.1:n.4368-2078_4368-2077insTGT