Canonical Allele Identifier: CA1910738314
Gene: PCDH15 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822352_53822362delinsGAGGAAGAGGA , CM000672.2:g.53822352_53822362delinsGAGGAAGAGGA GRCh38
NC_000010.10:g.55582112_55582122delinsGAGGAAGAGGA , CM000672.1:g.55582112_55582122delinsGAGGAAGAGGA GRCh37
NC_000010.9:g.55252118_55252128delinsGAGGAAGAGGA NCBI36
NG_009191.2:g.983930_983940delinsTCCTCTTCCTC
NG_009191.3:g.1811821_1811831delinsTCCTCTTCCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2774_4409+2784delinsTCCTCTTCCTC ENSP00000482794.1:n.4409+2774_4409+2784delinsTCCTCTTCCTC
ENST00000320301.11:c.5364_5374delinsTCCTCTTCCTC MANE Plus Clinical ENSP00000322604.6:p.Leu1788=
ENST00000395445.6:c.4388+5031_4388+5041delinsTCCTCTTCCTC ENSP00000378832.2:n.4388+5031_4388+5041delinsTCCTCTTCCTC
ENST00000613657.5:c.4409+2774_4409+2784delinsTCCTCTTCCTC ENSP00000482794.1:n.4409+2774_4409+2784delinsTCCTCTTCCTC
ENST00000642496.1:c.3227-2132_3227-2122delinsTCCTCTTCCTC
ENST00000644397.2:c.4368-2132_4368-2122delinsTCCTCTTCCTC MANE Select ENSP00000495195.1:n.4368-2132_4368-2122delinsTCCTCTTCCTC
ENST00000320301.10:c.5364_5374delinsTCCTCTTCCTC ENSP00000322604.6:p.Leu1788=
ENST00000361849.7:c.5370_5380delinsTCCTCTTCCTC ENSP00000354950.3:p.Leu1790=
ENST00000373956.7:c.*3319_*3329delinsTCCTCTTCCTC ENSP00000363067.4:n.*3319_*3329delinsTCCTCTTCCTC
ENST00000373957.7:c.5385_5395delinsTCCTCTTCCTC ENSP00000363068.4:p.Leu1795=
ENST00000373965.6:c.4373+2774_4373+2784delinsTCCTCTTCCTC ENSP00000363076.3:n.4373+2774_4373+2784delinsTCCTCTTCCTC
ENST00000395430.5:c.5355_5365delinsTCCTCTTCCTC ENSP00000378818.1:p.Leu1785=
ENST00000395432.6:c.5244_5254delinsTCCTCTTCCTC ENSP00000378820.2:p.Leu1748=
ENST00000395433.5:c.5295_5305delinsTCCTCTTCCTC ENSP00000378821.1:p.Leu1765=
ENST00000395438.5:c.4371+5030_4371+5040delinsTCCTCTTCCTC ENSP00000378826.2:n.4371+5030_4371+5040delinsTCCTCTTCCTC
ENST00000395440.5:c.1306-12816_1306-12806delinsTCCTCTTCCTC ENSP00000378827.1:n.1306-12816_1306-12806delinsTCCTCTTCCTC
ENST00000395442.5:c.1099-12816_1099-12806delinsTCCTCTTCCTC ENSP00000378829.1:n.1099-12816_1099-12806delinsTCCTCTTCCTC
ENST00000395445.5:c.4388+5031_4388+5041delinsTCCTCTTCCTC ENSP00000378832.2:n.4388+5031_4388+5041delinsTCCTCTTCCTC
ENST00000395446.5:c.2092-12816_2092-12806delinsTCCTCTTCCTC ENSP00000378833.1:n.2092-12816_2092-12806delinsTCCTCTTCCTC
ENST00000409834.5:c.3206+2774_3206+2784delinsTCCTCTTCCTC ENSP00000386693.1:n.3206+2774_3206+2784delinsTCCTCTTCCTC
ENST00000414367.5:c.*447+5031_*447+5041delinsTCCTCTTCCTC ENSP00000412531.1:n.*447+5031_*447+5041delinsTCCTCTTCCTC
ENST00000414778.5:c.4370+5031_4370+5041delinsTCCTCTTCCTC ENSP00000410304.2:n.4370+5031_4370+5041delinsTCCTCTTCCTC
ENST00000437009.5:c.5157_5167delinsTCCTCTTCCTC ENSP00000412628.2:p.Leu1719=
ENST00000448885.5:c.*3325_*3335delinsTCCTCTTCCTC ENSP00000412320.1:n.*3325_*3335delinsTCCTCTTCCTC
ENST00000463095.2:n.2383_2393delinsTCCTCTTCCTC
ENST00000495484.5:c.462-4349_462-4339delinsTCCTCTTCCTC ENSP00000480780.1:n.462-4349_462-4339delinsTCCTCTTCCTC
ENST00000612394.4:c.4406+5031_4406+5041delinsTCCTCTTCCTC ENSP00000482921.1:n.4406+5031_4406+5041delinsTCCTCTTCCTC
ENST00000613657.4:c.4409+2774_4409+2784delinsTCCTCTTCCTC ENSP00000482794.1:n.4409+2774_4409+2784delinsTCCTCTTCCTC
ENST00000614895.4:c.4385+5031_4385+5041delinsTCCTCTTCCTC ENSP00000478512.1:n.4385+5031_4385+5041delinsTCCTCTTCCTC
ENST00000616114.4:c.4367+5031_4367+5041delinsTCCTCTTCCTC ENSP00000483745.1:n.4367+5031_4367+5041delinsTCCTCTTCCTC
ENST00000617051.4:c.5391_5401delinsTCCTCTTCCTC ENSP00000484703.1:p.Leu1797=
ENST00000617271.4:c.4373+2774_4373+2784delinsTCCTCTTCCTC ENSP00000478076.1:n.4373+2774_4373+2784delinsTCCTCTTCCTC
ENST00000618301.4:c.594-4349_594-4339delinsTCCTCTTCCTC ENSP00000482780.1:n.594-4349_594-4339delinsTCCTCTTCCTC
ENST00000621708.4:c.4388+2774_4388+2784delinsTCCTCTTCCTC ENSP00000484454.1:n.4388+2774_4388+2784delinsTCCTCTTCCTC
ENST00000622048.4:c.5163_5173delinsTCCTCTTCCTC ENSP00000482329.1:p.Leu1721=
NM_001142763.1:c.5385_5395delinsTCCTCTTCCTC NP_001136235.1:p.Leu1795=
NM_001142764.1:c.5370_5380delinsTCCTCTTCCTC NP_001136236.1:p.Leu1790=
NM_001142765.1:c.5157_5167delinsTCCTCTTCCTC NP_001136237.1:p.Leu1719=
NM_001142766.1:c.5355_5365delinsTCCTCTTCCTC NP_001136238.1:p.Leu1785=
NM_001142767.1:c.5244_5254delinsTCCTCTTCCTC NP_001136239.1:p.Leu1748=
NM_001142768.1:c.5304_5314delinsTCCTCTTCCTC NP_001136240.1:p.Leu1768=
NM_001142769.1:c.4409+2774_4409+2784delinsTCCTCTTCCTC NP_001136241.1:n.4409+2774_4409+2784delinsTCCTCTTCCTC
NM_001142770.1:c.4373+2774_4373+2784delinsTCCTCTTCCTC NP_001136242.1:n.4373+2774_4373+2784delinsTCCTCTTCCTC
NM_001142771.1:c.4388+2774_4388+2784delinsTCCTCTTCCTC NP_001136243.1:n.4388+2774_4388+2784delinsTCCTCTTCCTC
NM_001142772.1:c.4373+2774_4373+2784delinsTCCTCTTCCTC NP_001136244.1:n.4373+2774_4373+2784delinsTCCTCTTCCTC
NM_001142773.1:c.5295_5305delinsTCCTCTTCCTC NP_001136245.1:p.Leu1765=
NM_033056.3:c.5364_5374delinsTCCTCTTCCTC NP_149045.3:p.Leu1788=
NM_001142769.2:c.4409+2774_4409+2784delinsTCCTCTTCCTC NP_001136241.1:n.4409+2774_4409+2784delinsTCCTCTTCCTC
NM_001142770.2:c.4373+2774_4373+2784delinsTCCTCTTCCTC NP_001136242.1:n.4373+2774_4373+2784delinsTCCTCTTCCTC
NM_001354404.1:c.5298_5308delinsTCCTCTTCCTC NP_001341333.1:p.Leu1766=
NM_001354411.1:c.4388+5031_4388+5041delinsTCCTCTTCCTC NP_001341340.1:n.4388+5031_4388+5041delinsTCCTCTTCCTC
NM_001354420.1:c.4367+5031_4367+5041delinsTCCTCTTCCTC NP_001341349.1:n.4367+5031_4367+5041delinsTCCTCTTCCTC
NM_001354429.1:c.4368-4349_4368-4339delinsTCCTCTTCCTC NP_001341358.1:n.4368-4349_4368-4339delinsTCCTCTTCCTC
XM_017016573.2:c.4388+2774_4388+2784delinsTCCTCTTCCTC XP_016872062.1:n.4388+2774_4388+2784delinsTCCTCTTCCTC
XR_001747192.2:n.6377_6387delinsTCCTCTTCCTC
XR_001747193.2:n.6368_6378delinsTCCTCTTCCTC
NM_001142763.2:c.5385_5395delinsTCCTCTTCCTC NP_001136235.1:p.Leu1795=
NM_001142764.2:c.5370_5380delinsTCCTCTTCCTC NP_001136236.1:p.Leu1790=
NM_001142765.2:c.5157_5167delinsTCCTCTTCCTC NP_001136237.1:p.Leu1719=
NM_001142766.2:c.5355_5365delinsTCCTCTTCCTC NP_001136238.1:p.Leu1785=
NM_001142768.2:c.5304_5314delinsTCCTCTTCCTC NP_001136240.1:p.Leu1768=
NM_001142769.3:c.4409+2774_4409+2784delinsTCCTCTTCCTC NP_001136241.1:n.4409+2774_4409+2784delinsTCCTCTTCCTC
NM_001142770.3:c.4373+2774_4373+2784delinsTCCTCTTCCTC NP_001136242.1:n.4373+2774_4373+2784delinsTCCTCTTCCTC
NM_001142771.2:c.4388+2774_4388+2784delinsTCCTCTTCCTC NP_001136243.1:n.4388+2774_4388+2784delinsTCCTCTTCCTC
NM_001142772.2:c.4373+2774_4373+2784delinsTCCTCTTCCTC NP_001136244.1:n.4373+2774_4373+2784delinsTCCTCTTCCTC
NM_001142773.2:c.5295_5305delinsTCCTCTTCCTC NP_001136245.1:p.Leu1765=
NM_001354411.2:c.4388+5031_4388+5041delinsTCCTCTTCCTC NP_001341340.1:n.4388+5031_4388+5041delinsTCCTCTTCCTC
NM_001354420.2:c.4367+5031_4367+5041delinsTCCTCTTCCTC NP_001341349.1:n.4367+5031_4367+5041delinsTCCTCTTCCTC
NM_001354429.2:c.4368-4349_4368-4339delinsTCCTCTTCCTC NP_001341358.1:n.4368-4349_4368-4339delinsTCCTCTTCCTC
NM_033056.4:c.5364_5374delinsTCCTCTTCCTC MANE Plus Clinical NP_149045.3:p.Leu1788=
NM_001142767.2:c.5244_5254delinsTCCTCTTCCTC NP_001136239.1:p.Leu1748=
NM_001354404.2:c.5298_5308delinsTCCTCTTCCTC NP_001341333.1:p.Leu1766=
NM_001384140.1:c.4368-2132_4368-2122delinsTCCTCTTCCTC MANE Select NP_001371069.1:n.4368-2132_4368-2122delinsTCCTCTTCCTC
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