Canonical Allele Identifier: CA1910762039

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53808926_53808928delinsTTC , CM000672.2:g.53808926_53808928delinsTTC	GRCh38
NC_000010.10:g.55568686_55568688delinsTTC , CM000672.1:g.55568686_55568688delinsTTC	GRCh37
NC_000010.9:g.55238692_55238694delinsTTC	NCBI36
NG_009191.2:g.997364_997366delinsGAA
NG_009191.3:g.1825255_1825257delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5137_5139delinsGAA	ENSP00000482794.1:p.Glu1713=
ENST00000395445.6:c.5116_5118delinsGAA	ENSP00000378832.2:p.Glu1706=
ENST00000613657.5:c.5137_5139delinsGAA	ENSP00000482794.1:p.Glu1713=
ENST00000642496.1:c.3530+1628_3530+1630delinsGAA
ENST00000644397.2:c.4671+1628_4671+1630delinsGAA MANE Select	ENSP00000495195.1:n.4671+1628_4671+1630delinsGAA
ENST00000373965.6:c.4482+1628_4482+1630delinsGAA	ENSP00000363076.3:n.4482+1628_4482+1630delinsGAA
ENST00000395438.5:c.*552_*554delinsGAA	ENSP00000378826.2:n.*552_*554delinsGAA
ENST00000395440.5:c.1924_1926delinsGAA	ENSP00000378827.1:p.Glu642=
ENST00000395442.5:c.1717_1719delinsGAA	ENSP00000378829.1:p.Glu573=
ENST00000395445.5:c.5116_5118delinsGAA	ENSP00000378832.2:p.Glu1706=
ENST00000395446.5:c.2710_2712delinsGAA	ENSP00000378833.1:p.Glu904=
ENST00000409834.5:c.*552_*554delinsGAA	ENSP00000386693.1:n.*552_*554delinsGAA
ENST00000414367.5:c.*1175_*1177delinsGAA	ENSP00000412531.1:n.*1175_*1177delinsGAA
ENST00000414778.5:c.4479+1628_4479+1630delinsGAA	ENSP00000410304.2:n.4479+1628_4479+1630delinsGAA
ENST00000476074.5:n.609+1628_609+1630delinsGAA
ENST00000495484.5:c.699+1628_699+1630delinsGAA	ENSP00000480780.1:n.699+1628_699+1630delinsGAA
ENST00000612394.4:c.5134_5136delinsGAA	ENSP00000482921.1:p.Glu1712=
ENST00000613657.4:c.5137_5139delinsGAA	ENSP00000482794.1:p.Glu1713=
ENST00000614895.4:c.4494+1628_4494+1630delinsGAA	ENSP00000478512.1:n.4494+1628_4494+1630delinsGAA
ENST00000615043.1:c.737_739delinsGAA
ENST00000616114.4:c.4476+1628_4476+1630delinsGAA	ENSP00000483745.1:n.4476+1628_4476+1630delinsGAA
ENST00000617271.4:c.*552_*554delinsGAA	ENSP00000478076.1:n.*552_*554delinsGAA
ENST00000618301.4:c.831+1628_831+1630delinsGAA	ENSP00000482780.1:n.831+1628_831+1630delinsGAA
ENST00000621708.4:c.4497+1628_4497+1630delinsGAA	ENSP00000484454.1:n.4497+1628_4497+1630delinsGAA
NM_001142769.1:c.5137_5139delinsGAA	NP_001136241.1:p.Glu1713=
NM_001142770.1:c.*552_*554delinsGAA	NP_001136242.1:n.*552_*554delinsGAA
NM_001142771.1:c.4497+1628_4497+1630delinsGAA	NP_001136243.1:n.4497+1628_4497+1630delinsGAA
NM_001142772.1:c.4482+1628_4482+1630delinsGAA	NP_001136244.1:n.4482+1628_4482+1630delinsGAA
NM_001142769.2:c.5137_5139delinsGAA	NP_001136241.1:p.Glu1713=
NM_001142770.2:c.*552_*554delinsGAA	NP_001136242.1:n.*552_*554delinsGAA
NM_001354411.1:c.5116_5118delinsGAA	NP_001341340.1:p.Glu1706=
NM_001354420.1:c.4476+1628_4476+1630delinsGAA	NP_001341349.1:n.4476+1628_4476+1630delinsGAA
NM_001354429.1:c.4605+1628_4605+1630delinsGAA	NP_001341358.1:n.4605+1628_4605+1630delinsGAA
XM_017016573.2:c.5116_5118delinsGAA	XP_016872062.1:p.Glu1706=
XR_001747192.2:n.10963+1628_10963+1630delinsGAA
XR_001747193.2:n.10954+1628_10954+1630delinsGAA
NM_001142769.3:c.5137_5139delinsGAA	NP_001136241.1:p.Glu1713=
NM_001142770.3:c.*552_*554delinsGAA	NP_001136242.1:n.*552_*554delinsGAA
NM_001142771.2:c.4497+1628_4497+1630delinsGAA	NP_001136243.1:n.4497+1628_4497+1630delinsGAA
NM_001142772.2:c.4482+1628_4482+1630delinsGAA	NP_001136244.1:n.4482+1628_4482+1630delinsGAA
NM_001354411.2:c.5116_5118delinsGAA	NP_001341340.1:p.Glu1706=
NM_001354420.2:c.4476+1628_4476+1630delinsGAA	NP_001341349.1:n.4476+1628_4476+1630delinsGAA
NM_001354429.2:c.4605+1628_4605+1630delinsGAA	NP_001341358.1:n.4605+1628_4605+1630delinsGAA
NM_001384140.1:c.4671+1628_4671+1630delinsGAA MANE Select	NP_001371069.1:n.4671+1628_4671+1630delinsGAA