Canonical Allele Identifier: CA1910738830
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822433_53822445delinsGAGGAGCAGGAGC , CM000672.2:g.53822433_53822445delinsGAGGAGCAGGAGC GRCh38
NC_000010.10:g.55582193_55582205delinsGAGGAGCAGGAGC , CM000672.1:g.55582193_55582205delinsGAGGAGCAGGAGC GRCh37
NC_000010.9:g.55252199_55252211delinsGAGGAGCAGGAGC NCBI36
NG_009191.2:g.983847_983859delinsGCTCCTGCTCCTC
NG_009191.3:g.1811738_1811750delinsGCTCCTGCTCCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2691_4409+2703delinsGCTCCTGCTCCTC ENSP00000482794.1:n.4409+2691_4409+2703delinsGCTCCTGCTCCTC
ENST00000320301.11:c.5281_5293delinsGCTCCTGCTCCTC MANE Plus Clinical ENSP00000322604.6:p.Ala1761=
ENST00000395445.6:c.4388+4948_4388+4960delinsGCTCCTGCTCCTC ENSP00000378832.2:n.4388+4948_4388+4960delinsGCTCCTGCTCCTC
ENST00000613657.5:c.4409+2691_4409+2703delinsGCTCCTGCTCCTC ENSP00000482794.1:n.4409+2691_4409+2703delinsGCTCCTGCTCCTC
ENST00000642496.1:c.3227-2215_3227-2203delinsGCTCCTGCTCCTC
ENST00000644397.2:c.4368-2215_4368-2203delinsGCTCCTGCTCCTC MANE Select ENSP00000495195.1:n.4368-2215_4368-2203delinsGCTCCTGCTCCTC
ENST00000320301.10:c.5281_5293delinsGCTCCTGCTCCTC ENSP00000322604.6:p.Ala1761=
ENST00000361849.7:c.5287_5299delinsGCTCCTGCTCCTC ENSP00000354950.3:p.Ala1763=
ENST00000373956.7:c.*3236_*3248delinsGCTCCTGCTCCTC ENSP00000363067.4:n.*3236_*3248delinsGCTCCTGCTCCTC
ENST00000373957.7:c.5302_5314delinsGCTCCTGCTCCTC ENSP00000363068.4:p.Ala1768=
ENST00000373965.6:c.4373+2691_4373+2703delinsGCTCCTGCTCCTC ENSP00000363076.3:n.4373+2691_4373+2703delinsGCTCCTGCTCCTC
ENST00000395430.5:c.5272_5284delinsGCTCCTGCTCCTC ENSP00000378818.1:p.Ala1758=
ENST00000395432.6:c.5161_5173delinsGCTCCTGCTCCTC ENSP00000378820.2:p.Ala1721=
ENST00000395433.5:c.5212_5224delinsGCTCCTGCTCCTC ENSP00000378821.1:p.Ala1738=
ENST00000395438.5:c.4371+4947_4371+4959delinsGCTCCTGCTCCTC ENSP00000378826.2:n.4371+4947_4371+4959delinsGCTCCTGCTCCTC
ENST00000395440.5:c.1306-12899_1306-12887delinsGCTCCTGCTCCTC ENSP00000378827.1:n.1306-12899_1306-12887delinsGCTCCTGCTCCTC
ENST00000395442.5:c.1099-12899_1099-12887delinsGCTCCTGCTCCTC ENSP00000378829.1:n.1099-12899_1099-12887delinsGCTCCTGCTCCTC
ENST00000395445.5:c.4388+4948_4388+4960delinsGCTCCTGCTCCTC ENSP00000378832.2:n.4388+4948_4388+4960delinsGCTCCTGCTCCTC
ENST00000395446.5:c.2092-12899_2092-12887delinsGCTCCTGCTCCTC ENSP00000378833.1:n.2092-12899_2092-12887delinsGCTCCTGCTCCTC
ENST00000409834.5:c.3206+2691_3206+2703delinsGCTCCTGCTCCTC ENSP00000386693.1:n.3206+2691_3206+2703delinsGCTCCTGCTCCTC
ENST00000414367.5:c.*447+4948_*447+4960delinsGCTCCTGCTCCTC ENSP00000412531.1:n.*447+4948_*447+4960delinsGCTCCTGCTCCTC
ENST00000414778.5:c.4370+4948_4370+4960delinsGCTCCTGCTCCTC ENSP00000410304.2:n.4370+4948_4370+4960delinsGCTCCTGCTCCTC
ENST00000437009.5:c.5074_5086delinsGCTCCTGCTCCTC ENSP00000412628.2:p.Ala1692=
ENST00000448885.5:c.*3242_*3254delinsGCTCCTGCTCCTC ENSP00000412320.1:n.*3242_*3254delinsGCTCCTGCTCCTC
ENST00000463095.2:n.2300_2312delinsGCTCCTGCTCCTC
ENST00000495484.5:c.462-4432_462-4420delinsGCTCCTGCTCCTC ENSP00000480780.1:n.462-4432_462-4420delinsGCTCCTGCTCCTC
ENST00000612394.4:c.4406+4948_4406+4960delinsGCTCCTGCTCCTC ENSP00000482921.1:n.4406+4948_4406+4960delinsGCTCCTGCTCCTC
ENST00000613657.4:c.4409+2691_4409+2703delinsGCTCCTGCTCCTC ENSP00000482794.1:n.4409+2691_4409+2703delinsGCTCCTGCTCCTC
ENST00000614895.4:c.4385+4948_4385+4960delinsGCTCCTGCTCCTC ENSP00000478512.1:n.4385+4948_4385+4960delinsGCTCCTGCTCCTC
ENST00000616114.4:c.4367+4948_4367+4960delinsGCTCCTGCTCCTC ENSP00000483745.1:n.4367+4948_4367+4960delinsGCTCCTGCTCCTC
ENST00000617051.4:c.5308_5320delinsGCTCCTGCTCCTC ENSP00000484703.1:p.Ala1770=
ENST00000617271.4:c.4373+2691_4373+2703delinsGCTCCTGCTCCTC ENSP00000478076.1:n.4373+2691_4373+2703delinsGCTCCTGCTCCTC
ENST00000618301.4:c.594-4432_594-4420delinsGCTCCTGCTCCTC ENSP00000482780.1:n.594-4432_594-4420delinsGCTCCTGCTCCTC
ENST00000621708.4:c.4388+2691_4388+2703delinsGCTCCTGCTCCTC ENSP00000484454.1:n.4388+2691_4388+2703delinsGCTCCTGCTCCTC
ENST00000622048.4:c.5080_5092delinsGCTCCTGCTCCTC ENSP00000482329.1:p.Ala1694=
NM_001142763.1:c.5302_5314delinsGCTCCTGCTCCTC NP_001136235.1:p.Ala1768=
NM_001142764.1:c.5287_5299delinsGCTCCTGCTCCTC NP_001136236.1:p.Ala1763=
NM_001142765.1:c.5074_5086delinsGCTCCTGCTCCTC NP_001136237.1:p.Ala1692=
NM_001142766.1:c.5272_5284delinsGCTCCTGCTCCTC NP_001136238.1:p.Ala1758=
NM_001142767.1:c.5161_5173delinsGCTCCTGCTCCTC NP_001136239.1:p.Ala1721=
NM_001142768.1:c.5221_5233delinsGCTCCTGCTCCTC NP_001136240.1:p.Ala1741=
NM_001142769.1:c.4409+2691_4409+2703delinsGCTCCTGCTCCTC NP_001136241.1:n.4409+2691_4409+2703delinsGCTCCTGCTCCTC
NM_001142770.1:c.4373+2691_4373+2703delinsGCTCCTGCTCCTC NP_001136242.1:n.4373+2691_4373+2703delinsGCTCCTGCTCCTC
NM_001142771.1:c.4388+2691_4388+2703delinsGCTCCTGCTCCTC NP_001136243.1:n.4388+2691_4388+2703delinsGCTCCTGCTCCTC
NM_001142772.1:c.4373+2691_4373+2703delinsGCTCCTGCTCCTC NP_001136244.1:n.4373+2691_4373+2703delinsGCTCCTGCTCCTC
NM_001142773.1:c.5212_5224delinsGCTCCTGCTCCTC NP_001136245.1:p.Ala1738=
NM_033056.3:c.5281_5293delinsGCTCCTGCTCCTC NP_149045.3:p.Ala1761=
NM_001142769.2:c.4409+2691_4409+2703delinsGCTCCTGCTCCTC NP_001136241.1:n.4409+2691_4409+2703delinsGCTCCTGCTCCTC
NM_001142770.2:c.4373+2691_4373+2703delinsGCTCCTGCTCCTC NP_001136242.1:n.4373+2691_4373+2703delinsGCTCCTGCTCCTC
NM_001354404.1:c.5215_5227delinsGCTCCTGCTCCTC NP_001341333.1:p.Ala1739=
NM_001354411.1:c.4388+4948_4388+4960delinsGCTCCTGCTCCTC NP_001341340.1:n.4388+4948_4388+4960delinsGCTCCTGCTCCTC
NM_001354420.1:c.4367+4948_4367+4960delinsGCTCCTGCTCCTC NP_001341349.1:n.4367+4948_4367+4960delinsGCTCCTGCTCCTC
NM_001354429.1:c.4368-4432_4368-4420delinsGCTCCTGCTCCTC NP_001341358.1:n.4368-4432_4368-4420delinsGCTCCTGCTCCTC
XM_017016573.2:c.4388+2691_4388+2703delinsGCTCCTGCTCCTC XP_016872062.1:n.4388+2691_4388+2703delinsGCTCCTGCTCCTC
XR_001747192.2:n.6294_6306delinsGCTCCTGCTCCTC
XR_001747193.2:n.6285_6297delinsGCTCCTGCTCCTC
NM_001142763.2:c.5302_5314delinsGCTCCTGCTCCTC NP_001136235.1:p.Ala1768=
NM_001142764.2:c.5287_5299delinsGCTCCTGCTCCTC NP_001136236.1:p.Ala1763=
NM_001142765.2:c.5074_5086delinsGCTCCTGCTCCTC NP_001136237.1:p.Ala1692=
NM_001142766.2:c.5272_5284delinsGCTCCTGCTCCTC NP_001136238.1:p.Ala1758=
NM_001142768.2:c.5221_5233delinsGCTCCTGCTCCTC NP_001136240.1:p.Ala1741=
NM_001142769.3:c.4409+2691_4409+2703delinsGCTCCTGCTCCTC NP_001136241.1:n.4409+2691_4409+2703delinsGCTCCTGCTCCTC
NM_001142770.3:c.4373+2691_4373+2703delinsGCTCCTGCTCCTC NP_001136242.1:n.4373+2691_4373+2703delinsGCTCCTGCTCCTC
NM_001142771.2:c.4388+2691_4388+2703delinsGCTCCTGCTCCTC NP_001136243.1:n.4388+2691_4388+2703delinsGCTCCTGCTCCTC
NM_001142772.2:c.4373+2691_4373+2703delinsGCTCCTGCTCCTC NP_001136244.1:n.4373+2691_4373+2703delinsGCTCCTGCTCCTC
NM_001142773.2:c.5212_5224delinsGCTCCTGCTCCTC NP_001136245.1:p.Ala1738=
NM_001354411.2:c.4388+4948_4388+4960delinsGCTCCTGCTCCTC NP_001341340.1:n.4388+4948_4388+4960delinsGCTCCTGCTCCTC
NM_001354420.2:c.4367+4948_4367+4960delinsGCTCCTGCTCCTC NP_001341349.1:n.4367+4948_4367+4960delinsGCTCCTGCTCCTC
NM_001354429.2:c.4368-4432_4368-4420delinsGCTCCTGCTCCTC NP_001341358.1:n.4368-4432_4368-4420delinsGCTCCTGCTCCTC
NM_033056.4:c.5281_5293delinsGCTCCTGCTCCTC MANE Plus Clinical NP_149045.3:p.Ala1761=
NM_001142767.2:c.5161_5173delinsGCTCCTGCTCCTC NP_001136239.1:p.Ala1721=
NM_001354404.2:c.5215_5227delinsGCTCCTGCTCCTC NP_001341333.1:p.Ala1739=
NM_001384140.1:c.4368-2215_4368-2203delinsGCTCCTGCTCCTC MANE Select NP_001371069.1:n.4368-2215_4368-2203delinsGCTCCTGCTCCTC