Canonical Allele Identifier: CA1910762118
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808949_53808967delinsTTTCTTCTTCTTCTGAGTG , CM000672.2:g.53808949_53808967delinsTTTCTTCTTCTTCTGAGTG GRCh38
NC_000010.10:g.55568709_55568727delinsTTTCTTCTTCTTCTGAGTG , CM000672.1:g.55568709_55568727delinsTTTCTTCTTCTTCTGAGTG GRCh37
NC_000010.9:g.55238715_55238733delinsTTTCTTCTTCTTCTGAGTG NCBI36
NG_009191.2:g.997325_997343delinsCACTCAGAAGAAGAAGAAA
NG_009191.3:g.1825216_1825234delinsCACTCAGAAGAAGAAGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5098_5116delinsCACTCAGAAGAAGAAGAAA ENSP00000482794.1:p.His1700=
ENST00000395445.6:c.5077_5095delinsCACTCAGAAGAAGAAGAAA ENSP00000378832.2:p.His1693=
ENST00000613657.5:c.5098_5116delinsCACTCAGAAGAAGAAGAAA ENSP00000482794.1:p.His1700=
ENST00000642496.1:c.3530+1589_3530+1607delinsCACTCAGAAGAAGAAGAAA
ENST00000644397.2:c.4671+1589_4671+1607delinsCACTCAGAAGAAGAAGAAA MANE Select ENSP00000495195.1:n.4671+1589_4671+1607delinsCACTCAGAAGAAGAAG...
ENST00000373965.6:c.4482+1589_4482+1607delinsCACTCAGAAGAAGAAGAAA ENSP00000363076.3:n.4482+1589_4482+1607delinsCACTCAGAAGAAGAAG...
ENST00000395438.5:c.*513_*531delinsCACTCAGAAGAAGAAGAAA ENSP00000378826.2:n.*513_*531delinsCACTCAGAAGAAGAAGAAA
ENST00000395440.5:c.1885_1903delinsCACTCAGAAGAAGAAGAAA ENSP00000378827.1:p.His629=
ENST00000395442.5:c.1678_1696delinsCACTCAGAAGAAGAAGAAA ENSP00000378829.1:p.His560=
ENST00000395445.5:c.5077_5095delinsCACTCAGAAGAAGAAGAAA ENSP00000378832.2:p.His1693=
ENST00000395446.5:c.2671_2689delinsCACTCAGAAGAAGAAGAAA ENSP00000378833.1:p.His891=
ENST00000409834.5:c.*513_*531delinsCACTCAGAAGAAGAAGAAA ENSP00000386693.1:n.*513_*531delinsCACTCAGAAGAAGAAGAAA
ENST00000414367.5:c.*1136_*1154delinsCACTCAGAAGAAGAAGAAA ENSP00000412531.1:n.*1136_*1154delinsCACTCAGAAGAAGAAGAAA
ENST00000414778.5:c.4479+1589_4479+1607delinsCACTCAGAAGAAGAAGAAA ENSP00000410304.2:n.4479+1589_4479+1607delinsCACTCAGAAGAAGAAG...
ENST00000476074.5:n.609+1589_609+1607delinsCACTCAGAAGAAGAAGAAA
ENST00000495484.5:c.699+1589_699+1607delinsCACTCAGAAGAAGAAGAAA ENSP00000480780.1:n.699+1589_699+1607delinsCACTCAGAAGAAGAAGAA...
ENST00000612394.4:c.5095_5113delinsCACTCAGAAGAAGAAGAAA ENSP00000482921.1:p.His1699=
ENST00000613657.4:c.5098_5116delinsCACTCAGAAGAAGAAGAAA ENSP00000482794.1:p.His1700=
ENST00000614895.4:c.4494+1589_4494+1607delinsCACTCAGAAGAAGAAGAAA ENSP00000478512.1:n.4494+1589_4494+1607delinsCACTCAGAAGAAGAAG...
ENST00000615043.1:c.698_716delinsCACTCAGAAGAAGAAGAAA
ENST00000616114.4:c.4476+1589_4476+1607delinsCACTCAGAAGAAGAAGAAA ENSP00000483745.1:n.4476+1589_4476+1607delinsCACTCAGAAGAAGAAG...
ENST00000617271.4:c.*513_*531delinsCACTCAGAAGAAGAAGAAA ENSP00000478076.1:n.*513_*531delinsCACTCAGAAGAAGAAGAAA
ENST00000618301.4:c.831+1589_831+1607delinsCACTCAGAAGAAGAAGAAA ENSP00000482780.1:n.831+1589_831+1607delinsCACTCAGAAGAAGAAGAA...
ENST00000621708.4:c.4497+1589_4497+1607delinsCACTCAGAAGAAGAAGAAA ENSP00000484454.1:n.4497+1589_4497+1607delinsCACTCAGAAGAAGAAG...
NM_001142769.1:c.5098_5116delinsCACTCAGAAGAAGAAGAAA NP_001136241.1:p.His1700=
NM_001142770.1:c.*513_*531delinsCACTCAGAAGAAGAAGAAA NP_001136242.1:n.*513_*531delinsCACTCAGAAGAAGAAGAAA
NM_001142771.1:c.4497+1589_4497+1607delinsCACTCAGAAGAAGAAGAAA NP_001136243.1:n.4497+1589_4497+1607delinsCACTCAGAAGAAGAAGAAA...
NM_001142772.1:c.4482+1589_4482+1607delinsCACTCAGAAGAAGAAGAAA NP_001136244.1:n.4482+1589_4482+1607delinsCACTCAGAAGAAGAAGAAA...
NM_001142769.2:c.5098_5116delinsCACTCAGAAGAAGAAGAAA NP_001136241.1:p.His1700=
NM_001142770.2:c.*513_*531delinsCACTCAGAAGAAGAAGAAA NP_001136242.1:n.*513_*531delinsCACTCAGAAGAAGAAGAAA
NM_001354411.1:c.5077_5095delinsCACTCAGAAGAAGAAGAAA NP_001341340.1:p.His1693=
NM_001354420.1:c.4476+1589_4476+1607delinsCACTCAGAAGAAGAAGAAA NP_001341349.1:n.4476+1589_4476+1607delinsCACTCAGAAGAAGAAGAAA...
NM_001354429.1:c.4605+1589_4605+1607delinsCACTCAGAAGAAGAAGAAA NP_001341358.1:n.4605+1589_4605+1607delinsCACTCAGAAGAAGAAGAAA...
XM_017016573.2:c.5077_5095delinsCACTCAGAAGAAGAAGAAA XP_016872062.1:p.His1693=
XR_001747192.2:n.10963+1589_10963+1607delinsCACTCAGAAGAAGAAGAAA
XR_001747193.2:n.10954+1589_10954+1607delinsCACTCAGAAGAAGAAGAAA
NM_001142769.3:c.5098_5116delinsCACTCAGAAGAAGAAGAAA NP_001136241.1:p.His1700=
NM_001142770.3:c.*513_*531delinsCACTCAGAAGAAGAAGAAA NP_001136242.1:n.*513_*531delinsCACTCAGAAGAAGAAGAAA
NM_001142771.2:c.4497+1589_4497+1607delinsCACTCAGAAGAAGAAGAAA NP_001136243.1:n.4497+1589_4497+1607delinsCACTCAGAAGAAGAAGAAA...
NM_001142772.2:c.4482+1589_4482+1607delinsCACTCAGAAGAAGAAGAAA NP_001136244.1:n.4482+1589_4482+1607delinsCACTCAGAAGAAGAAGAAA...
NM_001354411.2:c.5077_5095delinsCACTCAGAAGAAGAAGAAA NP_001341340.1:p.His1693=
NM_001354420.2:c.4476+1589_4476+1607delinsCACTCAGAAGAAGAAGAAA NP_001341349.1:n.4476+1589_4476+1607delinsCACTCAGAAGAAGAAGAAA...
NM_001354429.2:c.4605+1589_4605+1607delinsCACTCAGAAGAAGAAGAAA NP_001341358.1:n.4605+1589_4605+1607delinsCACTCAGAAGAAGAAGAAA...
NM_001384140.1:c.4671+1589_4671+1607delinsCACTCAGAAGAAGAAGAAA MANE Select NP_001371069.1:n.4671+1589_4671+1607delinsCACTCAGAAGAAGAAGAAA...