Canonical Allele Identifier: CA2563222841
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53866629_53866630insGCCATGAGGTCACCCACCACAAGGACTATGAGAAGCAAGCACCGCCTGCCG , CM000672.2:g.53866629_53866630insGCCATGAGGTCACCCACCACAAGGACTATGAGAAGCAAGCACCGCCTGCCG GRCh38
NC_000010.10:g.55626389_55626390insGCCATGAGGTCACCCACCACAAGGACTATGAGAAGCAAGCACCGCCTGCCG , CM000672.1:g.55626389_55626390insGCCATGAGGTCACCCACCACAAGGACTATGAGAAGCAAGCACCGCCTGCCG GRCh37
NC_000010.9:g.55296395_55296396insGCCATGAGGTCACCCACCACAAGGACTATGAGAAGCAAGCACCGCCTGCCG NCBI36
NG_009191.2:g.939662_939663insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC
NG_009191.3:g.1767553_1767554insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC

Transcript Alleles

HGVS Amino-acid change
ENST00000613657.6:c.3753+12_3753+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000482794.1:n.3753+12_3753+13insCGG...
ENST00000320301.11:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC MANE Plus Clinical ENSP00000322604.6:n.3717+12_3717+13insCGG...
ENST00000395445.6:c.3738+12_3738+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000378832.2:n.3738+12_3738+13insCGG...
ENST00000613657.5:c.3753+12_3753+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000482794.1:n.3753+12_3753+13insCGG...
ENST00000642496.1:c.2576+12_2576+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC
ENST00000644397.2:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC MANE Select ENSP00000495195.1:n.3717+12_3717+13insCGG...
ENST00000320301.10:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000322604.6:n.3717+12_3717+13insCGG...
ENST00000361849.7:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000354950.3:n.3717+12_3717+13insCGG...
ENST00000373956.7:c.*1672+12_*1672+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000363067.4:n.*1672+12_*1672+13insC...
ENST00000373957.7:c.3732+12_3732+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000363068.4:n.3732+12_3732+13insCGG...
ENST00000373965.6:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000363076.3:n.3717+12_3717+13insCGG...
ENST00000395430.5:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000378818.1:n.3717+12_3717+13insCGG...
ENST00000395432.6:c.3606+12_3606+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000378820.2:n.3606+12_3606+13insCGG...
ENST00000395433.5:c.3651+12_3651+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000378821.1:n.3651+12_3651+13insCGG...
ENST00000395438.5:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000378826.2:n.3717+12_3717+13insCGG...
ENST00000395440.5:c.1306-57084_1306-57083insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000378827.1:n.1306-57084_1306-57083...
ENST00000395442.5:c.1099-57084_1099-57083insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000378829.1:n.1099-57084_1099-57083...
ENST00000395445.5:c.3738+12_3738+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000378832.2:n.3738+12_3738+13insCGG...
ENST00000395446.5:c.2092-57084_2092-57083insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000378833.1:n.2092-57084_2092-57083...
ENST00000409834.5:c.2550+12_2550+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000386693.1:n.2550+12_2550+13insCGG...
ENST00000414367.5:c.877-26134_877-26133insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000412531.1:n.877-26134_877-26133in...
ENST00000414778.5:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000410304.2:n.3717+12_3717+13insCGG...
ENST00000437009.5:c.3504+12_3504+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000412628.2:n.3504+12_3504+13insCGG...
ENST00000448885.5:c.*1672+12_*1672+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000412320.1:n.*1672+12_*1672+13insC...
ENST00000463095.2:n.736+12_736+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC
ENST00000495484.5:c.-24-9367_-24-9366insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000480780.1:n.-24-9367_-24-9366insC...
ENST00000612394.4:c.3753+12_3753+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000482921.1:n.3753+12_3753+13insCGG...
ENST00000613657.4:c.3753+12_3753+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000482794.1:n.3753+12_3753+13insCGG...
ENST00000614895.4:c.3732+12_3732+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000478512.1:n.3732+12_3732+13insCGG...
ENST00000616114.4:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000483745.1:n.3717+12_3717+13insCGG...
ENST00000617051.4:c.3732+12_3732+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000484703.1:n.3732+12_3732+13insCGG...
ENST00000617271.4:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000478076.1:n.3717+12_3717+13insCGG...
ENST00000621708.4:c.3732+12_3732+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000484454.1:n.3732+12_3732+13insCGG...
ENST00000622048.4:c.3504+12_3504+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC ENSP00000482329.1:n.3504+12_3504+13insCGG...
NM_001142763.1:c.3732+12_3732+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136235.1:n.3732+12_3732+13insCGGCAG...
NM_001142764.1:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136236.1:n.3717+12_3717+13insCGGCAG...
NM_001142765.1:c.3504+12_3504+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136237.1:n.3504+12_3504+13insCGGCAG...
NM_001142766.1:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136238.1:n.3717+12_3717+13insCGGCAG...
NM_001142767.1:c.3606+12_3606+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136239.1:n.3606+12_3606+13insCGGCAG...
NM_001142768.1:c.3651+12_3651+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136240.1:n.3651+12_3651+13insCGGCAG...
NM_001142769.1:c.3753+12_3753+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136241.1:n.3753+12_3753+13insCGGCAG...
NM_001142770.1:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136242.1:n.3717+12_3717+13insCGGCAG...
NM_001142771.1:c.3732+12_3732+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136243.1:n.3732+12_3732+13insCGGCAG...
NM_001142772.1:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136244.1:n.3717+12_3717+13insCGGCAG...
NM_001142773.1:c.3651+12_3651+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136245.1:n.3651+12_3651+13insCGGCAG...
NM_033056.3:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_149045.3:n.3717+12_3717+13insCGGCAGGCG...
NM_001142769.2:c.3753+12_3753+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136241.1:n.3753+12_3753+13insCGGCAG...
NM_001142770.2:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136242.1:n.3717+12_3717+13insCGGCAG...
NM_001354404.1:c.3651+12_3651+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001341333.1:n.3651+12_3651+13insCGGCAG...
NM_001354411.1:c.3738+12_3738+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001341340.1:n.3738+12_3738+13insCGGCAG...
NM_001354420.1:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001341349.1:n.3717+12_3717+13insCGGCAG...
NM_001354429.1:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001341358.1:n.3717+12_3717+13insCGGCAG...
XM_017016573.2:c.3732+12_3732+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC XP_016872062.1:n.3732+12_3732+13insCGGCAG...
XR_001747192.2:n.4730+12_4730+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC
XR_001747193.2:n.4730+12_4730+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC
NM_001142763.2:c.3732+12_3732+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136235.1:n.3732+12_3732+13insCGGCAG...
NM_001142764.2:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136236.1:n.3717+12_3717+13insCGGCAG...
NM_001142765.2:c.3504+12_3504+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136237.1:n.3504+12_3504+13insCGGCAG...
NM_001142766.2:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136238.1:n.3717+12_3717+13insCGGCAG...
NM_001142768.2:c.3651+12_3651+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136240.1:n.3651+12_3651+13insCGGCAG...
NM_001142769.3:c.3753+12_3753+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136241.1:n.3753+12_3753+13insCGGCAG...
NM_001142770.3:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136242.1:n.3717+12_3717+13insCGGCAG...
NM_001142771.2:c.3732+12_3732+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136243.1:n.3732+12_3732+13insCGGCAG...
NM_001142772.2:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136244.1:n.3717+12_3717+13insCGGCAG...
NM_001142773.2:c.3651+12_3651+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136245.1:n.3651+12_3651+13insCGGCAG...
NM_001354411.2:c.3738+12_3738+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001341340.1:n.3738+12_3738+13insCGGCAG...
NM_001354420.2:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001341349.1:n.3717+12_3717+13insCGGCAG...
NM_001354429.2:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001341358.1:n.3717+12_3717+13insCGGCAG...
NM_033056.4:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC MANE Plus Clinical NP_149045.3:n.3717+12_3717+13insCGGCAGGCG...
NM_001142767.2:c.3606+12_3606+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001136239.1:n.3606+12_3606+13insCGGCAG...
NM_001354404.2:c.3651+12_3651+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC NP_001341333.1:n.3651+12_3651+13insCGGCAG...
NM_001384140.1:c.3717+12_3717+13insCGGCAGGCGGTGCTTGCTTCTCATAGTCCTTGTGGTGGGTGACCTCATGGC MANE Select NP_001371069.1:n.3717+12_3717+13insCGGCAG...