Canonical Allele Identifier: CA1910762120
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808949_53808952delinsTTTC , CM000672.2:g.53808949_53808952delinsTTTC GRCh38
NC_000010.10:g.55568709_55568712delinsTTTC , CM000672.1:g.55568709_55568712delinsTTTC GRCh37
NC_000010.9:g.55238715_55238718delinsTTTC NCBI36
NG_009191.2:g.997340_997343delinsGAAA
NG_009191.3:g.1825231_1825234delinsGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5113_5116delinsGAAA ENSP00000482794.1:p.Glu1705=
ENST00000395445.6:c.5092_5095delinsGAAA ENSP00000378832.2:p.Glu1698=
ENST00000613657.5:c.5113_5116delinsGAAA ENSP00000482794.1:p.Glu1705=
ENST00000642496.1:c.3530+1604_3530+1607delinsGAAA
ENST00000644397.2:c.4671+1604_4671+1607delinsGAAA MANE Select ENSP00000495195.1:n.4671+1604_4671+1607delinsGAAA
ENST00000373965.6:c.4482+1604_4482+1607delinsGAAA ENSP00000363076.3:n.4482+1604_4482+1607delinsGAAA
ENST00000395438.5:c.*528_*531delinsGAAA ENSP00000378826.2:n.*528_*531delinsGAAA
ENST00000395440.5:c.1900_1903delinsGAAA ENSP00000378827.1:p.Glu634=
ENST00000395442.5:c.1693_1696delinsGAAA ENSP00000378829.1:p.Glu565=
ENST00000395445.5:c.5092_5095delinsGAAA ENSP00000378832.2:p.Glu1698=
ENST00000395446.5:c.2686_2689delinsGAAA ENSP00000378833.1:p.Glu896=
ENST00000409834.5:c.*528_*531delinsGAAA ENSP00000386693.1:n.*528_*531delinsGAAA
ENST00000414367.5:c.*1151_*1154delinsGAAA ENSP00000412531.1:n.*1151_*1154delinsGAAA
ENST00000414778.5:c.4479+1604_4479+1607delinsGAAA ENSP00000410304.2:n.4479+1604_4479+1607delinsGAAA
ENST00000476074.5:n.609+1604_609+1607delinsGAAA
ENST00000495484.5:c.699+1604_699+1607delinsGAAA ENSP00000480780.1:n.699+1604_699+1607delinsGAAA
ENST00000612394.4:c.5110_5113delinsGAAA ENSP00000482921.1:p.Glu1704=
ENST00000613657.4:c.5113_5116delinsGAAA ENSP00000482794.1:p.Glu1705=
ENST00000614895.4:c.4494+1604_4494+1607delinsGAAA ENSP00000478512.1:n.4494+1604_4494+1607delinsGAAA
ENST00000615043.1:c.713_716delinsGAAA
ENST00000616114.4:c.4476+1604_4476+1607delinsGAAA ENSP00000483745.1:n.4476+1604_4476+1607delinsGAAA
ENST00000617271.4:c.*528_*531delinsGAAA ENSP00000478076.1:n.*528_*531delinsGAAA
ENST00000618301.4:c.831+1604_831+1607delinsGAAA ENSP00000482780.1:n.831+1604_831+1607delinsGAAA
ENST00000621708.4:c.4497+1604_4497+1607delinsGAAA ENSP00000484454.1:n.4497+1604_4497+1607delinsGAAA
NM_001142769.1:c.5113_5116delinsGAAA NP_001136241.1:p.Glu1705=
NM_001142770.1:c.*528_*531delinsGAAA NP_001136242.1:n.*528_*531delinsGAAA
NM_001142771.1:c.4497+1604_4497+1607delinsGAAA NP_001136243.1:n.4497+1604_4497+1607delinsGAAA
NM_001142772.1:c.4482+1604_4482+1607delinsGAAA NP_001136244.1:n.4482+1604_4482+1607delinsGAAA
NM_001142769.2:c.5113_5116delinsGAAA NP_001136241.1:p.Glu1705=
NM_001142770.2:c.*528_*531delinsGAAA NP_001136242.1:n.*528_*531delinsGAAA
NM_001354411.1:c.5092_5095delinsGAAA NP_001341340.1:p.Glu1698=
NM_001354420.1:c.4476+1604_4476+1607delinsGAAA NP_001341349.1:n.4476+1604_4476+1607delinsGAAA
NM_001354429.1:c.4605+1604_4605+1607delinsGAAA NP_001341358.1:n.4605+1604_4605+1607delinsGAAA
XM_017016573.2:c.5092_5095delinsGAAA XP_016872062.1:p.Glu1698=
XR_001747192.2:n.10963+1604_10963+1607delinsGAAA
XR_001747193.2:n.10954+1604_10954+1607delinsGAAA
NM_001142769.3:c.5113_5116delinsGAAA NP_001136241.1:p.Glu1705=
NM_001142770.3:c.*528_*531delinsGAAA NP_001136242.1:n.*528_*531delinsGAAA
NM_001142771.2:c.4497+1604_4497+1607delinsGAAA NP_001136243.1:n.4497+1604_4497+1607delinsGAAA
NM_001142772.2:c.4482+1604_4482+1607delinsGAAA NP_001136244.1:n.4482+1604_4482+1607delinsGAAA
NM_001354411.2:c.5092_5095delinsGAAA NP_001341340.1:p.Glu1698=
NM_001354420.2:c.4476+1604_4476+1607delinsGAAA NP_001341349.1:n.4476+1604_4476+1607delinsGAAA
NM_001354429.2:c.4605+1604_4605+1607delinsGAAA NP_001341358.1:n.4605+1604_4605+1607delinsGAAA
NM_001384140.1:c.4671+1604_4671+1607delinsGAAA MANE Select NP_001371069.1:n.4671+1604_4671+1607delinsGAAA