Canonical Allele Identifier: CA2788034645
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808956_53808957insAG , CM000672.2:g.53808956_53808957insAG GRCh38
NC_000010.10:g.55568716_55568717insAG , CM000672.1:g.55568716_55568717insAG GRCh37
NC_000010.9:g.55238722_55238723insAG NCBI36
NG_009191.2:g.997335_997336insCT
NG_009191.3:g.1825226_1825227insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5108_5109insCT ENSP00000482794.1:p.Glu1703AspfsTer2
ENST00000395445.6:c.5087_5088insCT ENSP00000378832.2:p.Glu1696AspfsTer2
ENST00000613657.5:c.5108_5109insCT ENSP00000482794.1:p.Glu1703AspfsTer2
ENST00000642496.1:c.3530+1599_3530+1600insCT
ENST00000644397.2:c.4671+1599_4671+1600insCT MANE Select ENSP00000495195.1:n.4671+1599_4671+1600insCT
ENST00000373965.6:c.4482+1599_4482+1600insCT ENSP00000363076.3:n.4482+1599_4482+1600insCT
ENST00000395438.5:c.*523_*524insCT ENSP00000378826.2:n.*523_*524insCT
ENST00000395440.5:c.1895_1896insCT ENSP00000378827.1:p.Glu632AspfsTer2
ENST00000395442.5:c.1688_1689insCT ENSP00000378829.1:p.Glu563AspfsTer2
ENST00000395445.5:c.5087_5088insCT ENSP00000378832.2:p.Glu1696AspfsTer2
ENST00000395446.5:c.2681_2682insCT ENSP00000378833.1:p.Glu894AspfsTer2
ENST00000409834.5:c.*523_*524insCT ENSP00000386693.1:n.*523_*524insCT
ENST00000414367.5:c.*1146_*1147insCT ENSP00000412531.1:n.*1146_*1147insCT
ENST00000414778.5:c.4479+1599_4479+1600insCT ENSP00000410304.2:n.4479+1599_4479+1600insCT
ENST00000476074.5:n.609+1599_609+1600insCT
ENST00000495484.5:c.699+1599_699+1600insCT ENSP00000480780.1:n.699+1599_699+1600insCT
ENST00000612394.4:c.5105_5106insCT ENSP00000482921.1:p.Glu1702AspfsTer2
ENST00000613657.4:c.5108_5109insCT ENSP00000482794.1:p.Glu1703AspfsTer2
ENST00000614895.4:c.4494+1599_4494+1600insCT ENSP00000478512.1:n.4494+1599_4494+1600insCT
ENST00000615043.1:c.708_709insCT
ENST00000616114.4:c.4476+1599_4476+1600insCT ENSP00000483745.1:n.4476+1599_4476+1600insCT
ENST00000617271.4:c.*523_*524insCT ENSP00000478076.1:n.*523_*524insCT
ENST00000618301.4:c.831+1599_831+1600insCT ENSP00000482780.1:n.831+1599_831+1600insCT
ENST00000621708.4:c.4497+1599_4497+1600insCT ENSP00000484454.1:n.4497+1599_4497+1600insCT
NM_001142769.1:c.5108_5109insCT NP_001136241.1:p.Glu1703AspfsTer2
NM_001142770.1:c.*523_*524insCT NP_001136242.1:n.*523_*524insCT
NM_001142771.1:c.4497+1599_4497+1600insCT NP_001136243.1:n.4497+1599_4497+1600insCT
NM_001142772.1:c.4482+1599_4482+1600insCT NP_001136244.1:n.4482+1599_4482+1600insCT
NM_001142769.2:c.5108_5109insCT NP_001136241.1:p.Glu1703AspfsTer2
NM_001142770.2:c.*523_*524insCT NP_001136242.1:n.*523_*524insCT
NM_001354411.1:c.5087_5088insCT NP_001341340.1:p.Glu1696AspfsTer2
NM_001354420.1:c.4476+1599_4476+1600insCT NP_001341349.1:n.4476+1599_4476+1600insCT
NM_001354429.1:c.4605+1599_4605+1600insCT NP_001341358.1:n.4605+1599_4605+1600insCT
XM_017016573.2:c.5087_5088insCT XP_016872062.1:p.Glu1696AspfsTer2
XR_001747192.2:n.10963+1599_10963+1600insCT
XR_001747193.2:n.10954+1599_10954+1600insCT
NM_001142769.3:c.5108_5109insCT NP_001136241.1:p.Glu1703AspfsTer2
NM_001142770.3:c.*523_*524insCT NP_001136242.1:n.*523_*524insCT
NM_001142771.2:c.4497+1599_4497+1600insCT NP_001136243.1:n.4497+1599_4497+1600insCT
NM_001142772.2:c.4482+1599_4482+1600insCT NP_001136244.1:n.4482+1599_4482+1600insCT
NM_001354411.2:c.5087_5088insCT NP_001341340.1:p.Glu1696AspfsTer2
NM_001354420.2:c.4476+1599_4476+1600insCT NP_001341349.1:n.4476+1599_4476+1600insCT
NM_001354429.2:c.4605+1599_4605+1600insCT NP_001341358.1:n.4605+1599_4605+1600insCT
NM_001384140.1:c.4671+1599_4671+1600insCT MANE Select NP_001371069.1:n.4671+1599_4671+1600insCT