Canonical Allele Identifier: CA1910738977

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822447_53822452delinsGGAGGA , CM000672.2:g.53822447_53822452delinsGGAGGA	GRCh38
NC_000010.10:g.55582207_55582212delinsGGAGGA , CM000672.1:g.55582207_55582212delinsGGAGGA	GRCh37
NC_000010.9:g.55252213_55252218delinsGGAGGA	NCBI36
NG_009191.2:g.983840_983845delinsTCCTCC
NG_009191.3:g.1811731_1811736delinsTCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2684_4409+2689delinsTCCTCC	ENSP00000482794.1:n.4409+2684_4409+2689delinsTCCTCC
ENST00000320301.11:c.5274_5279delinsTCCTCC MANE Plus Clinical	ENSP00000322604.6:p.Pro1758=
ENST00000395445.6:c.4388+4941_4388+4946delinsTCCTCC	ENSP00000378832.2:n.4388+4941_4388+4946delinsTCCTCC
ENST00000613657.5:c.4409+2684_4409+2689delinsTCCTCC	ENSP00000482794.1:n.4409+2684_4409+2689delinsTCCTCC
ENST00000642496.1:c.3227-2222_3227-2217delinsTCCTCC
ENST00000644397.2:c.4368-2222_4368-2217delinsTCCTCC MANE Select	ENSP00000495195.1:n.4368-2222_4368-2217delinsTCCTCC
ENST00000320301.10:c.5274_5279delinsTCCTCC	ENSP00000322604.6:p.Pro1758=
ENST00000361849.7:c.5280_5285delinsTCCTCC	ENSP00000354950.3:p.Pro1760=
ENST00000373956.7:c.*3229_*3234delinsTCCTCC	ENSP00000363067.4:n.*3229_*3234delinsTCCTCC
ENST00000373957.7:c.5295_5300delinsTCCTCC	ENSP00000363068.4:p.Pro1765=
ENST00000373965.6:c.4373+2684_4373+2689delinsTCCTCC	ENSP00000363076.3:n.4373+2684_4373+2689delinsTCCTCC
ENST00000395430.5:c.5265_5270delinsTCCTCC	ENSP00000378818.1:p.Pro1755=
ENST00000395432.6:c.5154_5159delinsTCCTCC	ENSP00000378820.2:p.Pro1718=
ENST00000395433.5:c.5205_5210delinsTCCTCC	ENSP00000378821.1:p.Pro1735=
ENST00000395438.5:c.4371+4940_4371+4945delinsTCCTCC	ENSP00000378826.2:n.4371+4940_4371+4945delinsTCCTCC
ENST00000395440.5:c.1306-12906_1306-12901delinsTCCTCC	ENSP00000378827.1:n.1306-12906_1306-12901delinsTCCTCC
ENST00000395442.5:c.1099-12906_1099-12901delinsTCCTCC	ENSP00000378829.1:n.1099-12906_1099-12901delinsTCCTCC
ENST00000395445.5:c.4388+4941_4388+4946delinsTCCTCC	ENSP00000378832.2:n.4388+4941_4388+4946delinsTCCTCC
ENST00000395446.5:c.2092-12906_2092-12901delinsTCCTCC	ENSP00000378833.1:n.2092-12906_2092-12901delinsTCCTCC
ENST00000409834.5:c.3206+2684_3206+2689delinsTCCTCC	ENSP00000386693.1:n.3206+2684_3206+2689delinsTCCTCC
ENST00000414367.5:c.*447+4941_*447+4946delinsTCCTCC	ENSP00000412531.1:n.*447+4941_*447+4946delinsTCCTCC
ENST00000414778.5:c.4370+4941_4370+4946delinsTCCTCC	ENSP00000410304.2:n.4370+4941_4370+4946delinsTCCTCC
ENST00000437009.5:c.5067_5072delinsTCCTCC	ENSP00000412628.2:p.Pro1689=
ENST00000448885.5:c.*3235_*3240delinsTCCTCC	ENSP00000412320.1:n.*3235_*3240delinsTCCTCC
ENST00000463095.2:n.2293_2298delinsTCCTCC
ENST00000495484.5:c.462-4439_462-4434delinsTCCTCC	ENSP00000480780.1:n.462-4439_462-4434delinsTCCTCC
ENST00000612394.4:c.4406+4941_4406+4946delinsTCCTCC	ENSP00000482921.1:n.4406+4941_4406+4946delinsTCCTCC
ENST00000613657.4:c.4409+2684_4409+2689delinsTCCTCC	ENSP00000482794.1:n.4409+2684_4409+2689delinsTCCTCC
ENST00000614895.4:c.4385+4941_4385+4946delinsTCCTCC	ENSP00000478512.1:n.4385+4941_4385+4946delinsTCCTCC
ENST00000616114.4:c.4367+4941_4367+4946delinsTCCTCC	ENSP00000483745.1:n.4367+4941_4367+4946delinsTCCTCC
ENST00000617051.4:c.5301_5306delinsTCCTCC	ENSP00000484703.1:p.Pro1767=
ENST00000617271.4:c.4373+2684_4373+2689delinsTCCTCC	ENSP00000478076.1:n.4373+2684_4373+2689delinsTCCTCC
ENST00000618301.4:c.594-4439_594-4434delinsTCCTCC	ENSP00000482780.1:n.594-4439_594-4434delinsTCCTCC
ENST00000621708.4:c.4388+2684_4388+2689delinsTCCTCC	ENSP00000484454.1:n.4388+2684_4388+2689delinsTCCTCC
ENST00000622048.4:c.5073_5078delinsTCCTCC	ENSP00000482329.1:p.Pro1691=
NM_001142763.1:c.5295_5300delinsTCCTCC	NP_001136235.1:p.Pro1765=
NM_001142764.1:c.5280_5285delinsTCCTCC	NP_001136236.1:p.Pro1760=
NM_001142765.1:c.5067_5072delinsTCCTCC	NP_001136237.1:p.Pro1689=
NM_001142766.1:c.5265_5270delinsTCCTCC	NP_001136238.1:p.Pro1755=
NM_001142767.1:c.5154_5159delinsTCCTCC	NP_001136239.1:p.Pro1718=
NM_001142768.1:c.5214_5219delinsTCCTCC	NP_001136240.1:p.Pro1738=
NM_001142769.1:c.4409+2684_4409+2689delinsTCCTCC	NP_001136241.1:n.4409+2684_4409+2689delinsTCCTCC
NM_001142770.1:c.4373+2684_4373+2689delinsTCCTCC	NP_001136242.1:n.4373+2684_4373+2689delinsTCCTCC
NM_001142771.1:c.4388+2684_4388+2689delinsTCCTCC	NP_001136243.1:n.4388+2684_4388+2689delinsTCCTCC
NM_001142772.1:c.4373+2684_4373+2689delinsTCCTCC	NP_001136244.1:n.4373+2684_4373+2689delinsTCCTCC
NM_001142773.1:c.5205_5210delinsTCCTCC	NP_001136245.1:p.Pro1735=
NM_033056.3:c.5274_5279delinsTCCTCC	NP_149045.3:p.Pro1758=
NM_001142769.2:c.4409+2684_4409+2689delinsTCCTCC	NP_001136241.1:n.4409+2684_4409+2689delinsTCCTCC
NM_001142770.2:c.4373+2684_4373+2689delinsTCCTCC	NP_001136242.1:n.4373+2684_4373+2689delinsTCCTCC
NM_001354404.1:c.5208_5213delinsTCCTCC	NP_001341333.1:p.Pro1736=
NM_001354411.1:c.4388+4941_4388+4946delinsTCCTCC	NP_001341340.1:n.4388+4941_4388+4946delinsTCCTCC
NM_001354420.1:c.4367+4941_4367+4946delinsTCCTCC	NP_001341349.1:n.4367+4941_4367+4946delinsTCCTCC
NM_001354429.1:c.4368-4439_4368-4434delinsTCCTCC	NP_001341358.1:n.4368-4439_4368-4434delinsTCCTCC
XM_017016573.2:c.4388+2684_4388+2689delinsTCCTCC	XP_016872062.1:n.4388+2684_4388+2689delinsTCCTCC
XR_001747192.2:n.6287_6292delinsTCCTCC
XR_001747193.2:n.6278_6283delinsTCCTCC
NM_001142763.2:c.5295_5300delinsTCCTCC	NP_001136235.1:p.Pro1765=
NM_001142764.2:c.5280_5285delinsTCCTCC	NP_001136236.1:p.Pro1760=
NM_001142765.2:c.5067_5072delinsTCCTCC	NP_001136237.1:p.Pro1689=
NM_001142766.2:c.5265_5270delinsTCCTCC	NP_001136238.1:p.Pro1755=
NM_001142768.2:c.5214_5219delinsTCCTCC	NP_001136240.1:p.Pro1738=
NM_001142769.3:c.4409+2684_4409+2689delinsTCCTCC	NP_001136241.1:n.4409+2684_4409+2689delinsTCCTCC
NM_001142770.3:c.4373+2684_4373+2689delinsTCCTCC	NP_001136242.1:n.4373+2684_4373+2689delinsTCCTCC
NM_001142771.2:c.4388+2684_4388+2689delinsTCCTCC	NP_001136243.1:n.4388+2684_4388+2689delinsTCCTCC
NM_001142772.2:c.4373+2684_4373+2689delinsTCCTCC	NP_001136244.1:n.4373+2684_4373+2689delinsTCCTCC
NM_001142773.2:c.5205_5210delinsTCCTCC	NP_001136245.1:p.Pro1735=
NM_001354411.2:c.4388+4941_4388+4946delinsTCCTCC	NP_001341340.1:n.4388+4941_4388+4946delinsTCCTCC
NM_001354420.2:c.4367+4941_4367+4946delinsTCCTCC	NP_001341349.1:n.4367+4941_4367+4946delinsTCCTCC
NM_001354429.2:c.4368-4439_4368-4434delinsTCCTCC	NP_001341358.1:n.4368-4439_4368-4434delinsTCCTCC
NM_033056.4:c.5274_5279delinsTCCTCC MANE Plus Clinical	NP_149045.3:p.Pro1758=
NM_001142767.2:c.5154_5159delinsTCCTCC	NP_001136239.1:p.Pro1718=
NM_001354404.2:c.5208_5213delinsTCCTCC	NP_001341333.1:p.Pro1736=
NM_001384140.1:c.4368-2222_4368-2217delinsTCCTCC MANE Select	NP_001371069.1:n.4368-2222_4368-2217delinsTCCTCC