Canonical Allele Identifier: CA2788035353
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822383_53822385del , CM000672.2:g.53822383_53822385del GRCh38
NC_000010.10:g.55582143_55582145del , CM000672.1:g.55582143_55582145del GRCh37
NC_000010.9:g.55252149_55252151del NCBI36
NG_009191.2:g.983907_983909del
NG_009191.3:g.1811798_1811800del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2751_4409+2753del ENSP00000482794.1:n.4409+2751_4409+2753del
ENST00000320301.11:c.5341_5343del MANE Plus Clinical ENSP00000322604.6:p.Pro1781del
ENST00000395445.6:c.4388+5008_4388+5010del ENSP00000378832.2:n.4388+5008_4388+5010del
ENST00000613657.5:c.4409+2751_4409+2753del ENSP00000482794.1:n.4409+2751_4409+2753del
ENST00000642496.1:c.3227-2155_3227-2153del
ENST00000644397.2:c.4368-2155_4368-2153del MANE Select ENSP00000495195.1:n.4368-2155_4368-2153del
ENST00000320301.10:c.5341_5343del ENSP00000322604.6:p.Pro1781del
ENST00000361849.7:c.5347_5349del ENSP00000354950.3:p.Pro1783del
ENST00000373956.7:c.*3296_*3298del ENSP00000363067.4:n.*3296_*3298del
ENST00000373957.7:c.5362_5364del ENSP00000363068.4:p.Pro1788del
ENST00000373965.6:c.4373+2751_4373+2753del ENSP00000363076.3:n.4373+2751_4373+2753del
ENST00000395430.5:c.5332_5334del ENSP00000378818.1:p.Pro1778del
ENST00000395432.6:c.5221_5223del ENSP00000378820.2:p.Pro1741del
ENST00000395433.5:c.5272_5274del ENSP00000378821.1:p.Pro1758del
ENST00000395438.5:c.4371+5007_4371+5009del ENSP00000378826.2:n.4371+5007_4371+5009del
ENST00000395440.5:c.1306-12839_1306-12837del ENSP00000378827.1:n.1306-12839_1306-12837del
ENST00000395442.5:c.1099-12839_1099-12837del ENSP00000378829.1:n.1099-12839_1099-12837del
ENST00000395445.5:c.4388+5008_4388+5010del ENSP00000378832.2:n.4388+5008_4388+5010del
ENST00000395446.5:c.2092-12839_2092-12837del ENSP00000378833.1:n.2092-12839_2092-12837del
ENST00000409834.5:c.3206+2751_3206+2753del ENSP00000386693.1:n.3206+2751_3206+2753del
ENST00000414367.5:c.*447+5008_*447+5010del ENSP00000412531.1:n.*447+5008_*447+5010del
ENST00000414778.5:c.4370+5008_4370+5010del ENSP00000410304.2:n.4370+5008_4370+5010del
ENST00000437009.5:c.5134_5136del ENSP00000412628.2:p.Pro1712del
ENST00000448885.5:c.*3302_*3304del ENSP00000412320.1:n.*3302_*3304del
ENST00000463095.2:n.2360_2362del
ENST00000495484.5:c.462-4372_462-4370del ENSP00000480780.1:n.462-4372_462-4370del
ENST00000612394.4:c.4406+5008_4406+5010del ENSP00000482921.1:n.4406+5008_4406+5010del
ENST00000613657.4:c.4409+2751_4409+2753del ENSP00000482794.1:n.4409+2751_4409+2753del
ENST00000614895.4:c.4385+5008_4385+5010del ENSP00000478512.1:n.4385+5008_4385+5010del
ENST00000616114.4:c.4367+5008_4367+5010del ENSP00000483745.1:n.4367+5008_4367+5010del
ENST00000617051.4:c.5368_5370del ENSP00000484703.1:p.Pro1790del
ENST00000617271.4:c.4373+2751_4373+2753del ENSP00000478076.1:n.4373+2751_4373+2753del
ENST00000618301.4:c.594-4372_594-4370del ENSP00000482780.1:n.594-4372_594-4370del
ENST00000621708.4:c.4388+2751_4388+2753del ENSP00000484454.1:n.4388+2751_4388+2753del
ENST00000622048.4:c.5140_5142del ENSP00000482329.1:p.Pro1714del
NM_001142763.1:c.5362_5364del NP_001136235.1:p.Pro1788del
NM_001142764.1:c.5347_5349del NP_001136236.1:p.Pro1783del
NM_001142765.1:c.5134_5136del NP_001136237.1:p.Pro1712del
NM_001142766.1:c.5332_5334del NP_001136238.1:p.Pro1778del
NM_001142767.1:c.5221_5223del NP_001136239.1:p.Pro1741del
NM_001142768.1:c.5281_5283del NP_001136240.1:p.Pro1761del
NM_001142769.1:c.4409+2751_4409+2753del NP_001136241.1:n.4409+2751_4409+2753del
NM_001142770.1:c.4373+2751_4373+2753del NP_001136242.1:n.4373+2751_4373+2753del
NM_001142771.1:c.4388+2751_4388+2753del NP_001136243.1:n.4388+2751_4388+2753del
NM_001142772.1:c.4373+2751_4373+2753del NP_001136244.1:n.4373+2751_4373+2753del
NM_001142773.1:c.5272_5274del NP_001136245.1:p.Pro1758del
NM_033056.3:c.5341_5343del NP_149045.3:p.Pro1781del
NM_001142769.2:c.4409+2751_4409+2753del NP_001136241.1:n.4409+2751_4409+2753del
NM_001142770.2:c.4373+2751_4373+2753del NP_001136242.1:n.4373+2751_4373+2753del
NM_001354404.1:c.5275_5277del NP_001341333.1:p.Pro1759del
NM_001354411.1:c.4388+5008_4388+5010del NP_001341340.1:n.4388+5008_4388+5010del
NM_001354420.1:c.4367+5008_4367+5010del NP_001341349.1:n.4367+5008_4367+5010del
NM_001354429.1:c.4368-4372_4368-4370del NP_001341358.1:n.4368-4372_4368-4370del
XM_017016573.2:c.4388+2751_4388+2753del XP_016872062.1:n.4388+2751_4388+2753del
XR_001747192.2:n.6354_6356del
XR_001747193.2:n.6345_6347del
NM_001142763.2:c.5362_5364del NP_001136235.1:p.Pro1788del
NM_001142764.2:c.5347_5349del NP_001136236.1:p.Pro1783del
NM_001142765.2:c.5134_5136del NP_001136237.1:p.Pro1712del
NM_001142766.2:c.5332_5334del NP_001136238.1:p.Pro1778del
NM_001142768.2:c.5281_5283del NP_001136240.1:p.Pro1761del
NM_001142769.3:c.4409+2751_4409+2753del NP_001136241.1:n.4409+2751_4409+2753del
NM_001142770.3:c.4373+2751_4373+2753del NP_001136242.1:n.4373+2751_4373+2753del
NM_001142771.2:c.4388+2751_4388+2753del NP_001136243.1:n.4388+2751_4388+2753del
NM_001142772.2:c.4373+2751_4373+2753del NP_001136244.1:n.4373+2751_4373+2753del
NM_001142773.2:c.5272_5274del NP_001136245.1:p.Pro1758del
NM_001354411.2:c.4388+5008_4388+5010del NP_001341340.1:n.4388+5008_4388+5010del
NM_001354420.2:c.4367+5008_4367+5010del NP_001341349.1:n.4367+5008_4367+5010del
NM_001354429.2:c.4368-4372_4368-4370del NP_001341358.1:n.4368-4372_4368-4370del
NM_033056.4:c.5341_5343del MANE Plus Clinical NP_149045.3:p.Pro1781del
NM_001142767.2:c.5221_5223del NP_001136239.1:p.Pro1741del
NM_001354404.2:c.5275_5277del NP_001341333.1:p.Pro1759del
NM_001384140.1:c.4368-2155_4368-2153del MANE Select NP_001371069.1:n.4368-2155_4368-2153del