Canonical Allele Identifier: CA593783002
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1426641091
gnomAD v2: 10-55582096-G-GT
MyVariant Identifiers: chr10:g.55582096_55582097insT (hg19) chr10:g.53822336_53822337insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822336_53822337insT , CM000672.2:g.53822336_53822337insT GRCh38
NC_000010.10:g.55582096_55582097insT , CM000672.1:g.55582096_55582097insT GRCh37
NC_000010.9:g.55252102_55252103insT NCBI36
NG_009191.2:g.983955_983956insA
NG_009191.3:g.1811846_1811847insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2799_4409+2800insA ENSP00000482794.1:n.4409+2799_4409+2800insA
ENST00000320301.11:c.5389_5390insA MANE Plus Clinical ENSP00000322604.6:p.Pro1797HisfsTer?
ENST00000395445.6:c.4388+5056_4388+5057insA ENSP00000378832.2:n.4388+5056_4388+5057insA
ENST00000613657.5:c.4409+2799_4409+2800insA ENSP00000482794.1:n.4409+2799_4409+2800insA
ENST00000642496.1:c.3227-2107_3227-2106insA
ENST00000644397.2:c.4368-2107_4368-2106insA MANE Select ENSP00000495195.1:n.4368-2107_4368-2106insA
ENST00000320301.10:c.5389_5390insA ENSP00000322604.6:p.Pro1797HisfsTer?
ENST00000361849.7:c.5395_5396insA ENSP00000354950.3:p.Pro1799HisfsTer?
ENST00000373956.7:c.*3344_*3345insA ENSP00000363067.4:n.*3344_*3345insA
ENST00000373957.7:c.5410_5411insA ENSP00000363068.4:p.Pro1804HisfsTer?
ENST00000373965.6:c.4373+2799_4373+2800insA ENSP00000363076.3:n.4373+2799_4373+2800insA
ENST00000395430.5:c.5380_5381insA ENSP00000378818.1:p.Pro1794HisfsTer?
ENST00000395432.6:c.5269_5270insA ENSP00000378820.2:p.Pro1757HisfsTer?
ENST00000395433.5:c.5320_5321insA ENSP00000378821.1:p.Pro1774HisfsTer?
ENST00000395438.5:c.4371+5055_4371+5056insA ENSP00000378826.2:n.4371+5055_4371+5056insA
ENST00000395440.5:c.1306-12791_1306-12790insA ENSP00000378827.1:n.1306-12791_1306-12790insA
ENST00000395442.5:c.1099-12791_1099-12790insA ENSP00000378829.1:n.1099-12791_1099-12790insA
ENST00000395445.5:c.4388+5056_4388+5057insA ENSP00000378832.2:n.4388+5056_4388+5057insA
ENST00000395446.5:c.2092-12791_2092-12790insA ENSP00000378833.1:n.2092-12791_2092-12790insA
ENST00000409834.5:c.3206+2799_3206+2800insA ENSP00000386693.1:n.3206+2799_3206+2800insA
ENST00000414367.5:c.*447+5056_*447+5057insA ENSP00000412531.1:n.*447+5056_*447+5057insA
ENST00000414778.5:c.4370+5056_4370+5057insA ENSP00000410304.2:n.4370+5056_4370+5057insA
ENST00000437009.5:c.5182_5183insA ENSP00000412628.2:p.Pro1728HisfsTer?
ENST00000448885.5:c.*3350_*3351insA ENSP00000412320.1:n.*3350_*3351insA
ENST00000463095.2:n.2408_2409insA
ENST00000495484.5:c.462-4324_462-4323insA ENSP00000480780.1:n.462-4324_462-4323insA
ENST00000612394.4:c.4406+5056_4406+5057insA ENSP00000482921.1:n.4406+5056_4406+5057insA
ENST00000613657.4:c.4409+2799_4409+2800insA ENSP00000482794.1:n.4409+2799_4409+2800insA
ENST00000614895.4:c.4385+5056_4385+5057insA ENSP00000478512.1:n.4385+5056_4385+5057insA
ENST00000616114.4:c.4367+5056_4367+5057insA ENSP00000483745.1:n.4367+5056_4367+5057insA
ENST00000617051.4:c.5416_5417insA ENSP00000484703.1:p.Pro1806HisfsTer?
ENST00000617271.4:c.4373+2799_4373+2800insA ENSP00000478076.1:n.4373+2799_4373+2800insA
ENST00000618301.4:c.594-4324_594-4323insA ENSP00000482780.1:n.594-4324_594-4323insA
ENST00000621708.4:c.4388+2799_4388+2800insA ENSP00000484454.1:n.4388+2799_4388+2800insA
ENST00000622048.4:c.5188_5189insA ENSP00000482329.1:p.Pro1730HisfsTer?
NM_001142763.1:c.5410_5411insA NP_001136235.1:p.Pro1804HisfsTer?
NM_001142764.1:c.5395_5396insA NP_001136236.1:p.Pro1799HisfsTer?
NM_001142765.1:c.5182_5183insA NP_001136237.1:p.Pro1728HisfsTer?
NM_001142766.1:c.5380_5381insA NP_001136238.1:p.Pro1794HisfsTer?
NM_001142767.1:c.5269_5270insA NP_001136239.1:p.Pro1757HisfsTer?
NM_001142768.1:c.5329_5330insA NP_001136240.1:p.Pro1777HisfsTer?
NM_001142769.1:c.4409+2799_4409+2800insA NP_001136241.1:n.4409+2799_4409+2800insA
NM_001142770.1:c.4373+2799_4373+2800insA NP_001136242.1:n.4373+2799_4373+2800insA
NM_001142771.1:c.4388+2799_4388+2800insA NP_001136243.1:n.4388+2799_4388+2800insA
NM_001142772.1:c.4373+2799_4373+2800insA NP_001136244.1:n.4373+2799_4373+2800insA
NM_001142773.1:c.5320_5321insA NP_001136245.1:p.Pro1774HisfsTer?
NM_033056.3:c.5389_5390insA NP_149045.3:p.Pro1797HisfsTer?
NM_001142769.2:c.4409+2799_4409+2800insA NP_001136241.1:n.4409+2799_4409+2800insA
NM_001142770.2:c.4373+2799_4373+2800insA NP_001136242.1:n.4373+2799_4373+2800insA
NM_001354404.1:c.5323_5324insA NP_001341333.1:p.Pro1775HisfsTer?
NM_001354411.1:c.4388+5056_4388+5057insA NP_001341340.1:n.4388+5056_4388+5057insA
NM_001354420.1:c.4367+5056_4367+5057insA NP_001341349.1:n.4367+5056_4367+5057insA
NM_001354429.1:c.4368-4324_4368-4323insA NP_001341358.1:n.4368-4324_4368-4323insA
XM_017016573.2:c.4388+2799_4388+2800insA XP_016872062.1:n.4388+2799_4388+2800insA
XR_001747192.2:n.6402_6403insA
XR_001747193.2:n.6393_6394insA
NM_001142763.2:c.5410_5411insA NP_001136235.1:p.Pro1804HisfsTer?
NM_001142764.2:c.5395_5396insA NP_001136236.1:p.Pro1799HisfsTer?
NM_001142765.2:c.5182_5183insA NP_001136237.1:p.Pro1728HisfsTer?
NM_001142766.2:c.5380_5381insA NP_001136238.1:p.Pro1794HisfsTer?
NM_001142768.2:c.5329_5330insA NP_001136240.1:p.Pro1777HisfsTer?
NM_001142769.3:c.4409+2799_4409+2800insA NP_001136241.1:n.4409+2799_4409+2800insA
NM_001142770.3:c.4373+2799_4373+2800insA NP_001136242.1:n.4373+2799_4373+2800insA
NM_001142771.2:c.4388+2799_4388+2800insA NP_001136243.1:n.4388+2799_4388+2800insA
NM_001142772.2:c.4373+2799_4373+2800insA NP_001136244.1:n.4373+2799_4373+2800insA
NM_001142773.2:c.5320_5321insA NP_001136245.1:p.Pro1774HisfsTer?
NM_001354411.2:c.4388+5056_4388+5057insA NP_001341340.1:n.4388+5056_4388+5057insA
NM_001354420.2:c.4367+5056_4367+5057insA NP_001341349.1:n.4367+5056_4367+5057insA
NM_001354429.2:c.4368-4324_4368-4323insA NP_001341358.1:n.4368-4324_4368-4323insA
NM_033056.4:c.5389_5390insA MANE Plus Clinical NP_149045.3:p.Pro1797HisfsTer?
NM_001142767.2:c.5269_5270insA NP_001136239.1:p.Pro1757HisfsTer?
NM_001354404.2:c.5323_5324insA NP_001341333.1:p.Pro1775HisfsTer?
NM_001384140.1:c.4368-2107_4368-2106insA MANE Select NP_001371069.1:n.4368-2107_4368-2106insA
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