Canonical Allele Identifier: CA1910762275

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53808997_53809000delinsGTTC , CM000672.2:g.53808997_53809000delinsGTTC	GRCh38
NC_000010.10:g.55568757_55568760delinsGTTC , CM000672.1:g.55568757_55568760delinsGTTC	GRCh37
NC_000010.9:g.55238763_55238766delinsGTTC	NCBI36
NG_009191.2:g.997292_997295delinsGAAC
NG_009191.3:g.1825183_1825186delinsGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5065_5068delinsGAAC	ENSP00000482794.1:p.Glu1689=
ENST00000395445.6:c.5044_5047delinsGAAC	ENSP00000378832.2:p.Glu1682=
ENST00000613657.5:c.5065_5068delinsGAAC	ENSP00000482794.1:p.Glu1689=
ENST00000642496.1:c.3530+1556_3530+1559delinsGAAC
ENST00000644397.2:c.4671+1556_4671+1559delinsGAAC MANE Select	ENSP00000495195.1:n.4671+1556_4671+1559delinsGAAC
ENST00000373965.6:c.4482+1556_4482+1559delinsGAAC	ENSP00000363076.3:n.4482+1556_4482+1559delinsGAAC
ENST00000395438.5:c.*480_*483delinsGAAC	ENSP00000378826.2:n.*480_*483delinsGAAC
ENST00000395440.5:c.1852_1855delinsGAAC	ENSP00000378827.1:p.Glu618=
ENST00000395442.5:c.1645_1648delinsGAAC	ENSP00000378829.1:p.Glu549=
ENST00000395445.5:c.5044_5047delinsGAAC	ENSP00000378832.2:p.Glu1682=
ENST00000395446.5:c.2638_2641delinsGAAC	ENSP00000378833.1:p.Glu880=
ENST00000409834.5:c.*480_*483delinsGAAC	ENSP00000386693.1:n.*480_*483delinsGAAC
ENST00000414367.5:c.*1103_*1106delinsGAAC	ENSP00000412531.1:n.*1103_*1106delinsGAAC
ENST00000414778.5:c.4479+1556_4479+1559delinsGAAC	ENSP00000410304.2:n.4479+1556_4479+1559delinsGAAC
ENST00000476074.5:n.609+1556_609+1559delinsGAAC
ENST00000495484.5:c.699+1556_699+1559delinsGAAC	ENSP00000480780.1:n.699+1556_699+1559delinsGAAC
ENST00000612394.4:c.5062_5065delinsGAAC	ENSP00000482921.1:p.Glu1688=
ENST00000613657.4:c.5065_5068delinsGAAC	ENSP00000482794.1:p.Glu1689=
ENST00000614895.4:c.4494+1556_4494+1559delinsGAAC	ENSP00000478512.1:n.4494+1556_4494+1559delinsGAAC
ENST00000615043.1:c.665_668delinsGAAC
ENST00000616114.4:c.4476+1556_4476+1559delinsGAAC	ENSP00000483745.1:n.4476+1556_4476+1559delinsGAAC
ENST00000617271.4:c.*480_*483delinsGAAC	ENSP00000478076.1:n.*480_*483delinsGAAC
ENST00000618301.4:c.831+1556_831+1559delinsGAAC	ENSP00000482780.1:n.831+1556_831+1559delinsGAAC
ENST00000621708.4:c.4497+1556_4497+1559delinsGAAC	ENSP00000484454.1:n.4497+1556_4497+1559delinsGAAC
NM_001142769.1:c.5065_5068delinsGAAC	NP_001136241.1:p.Glu1689=
NM_001142770.1:c.*480_*483delinsGAAC	NP_001136242.1:n.*480_*483delinsGAAC
NM_001142771.1:c.4497+1556_4497+1559delinsGAAC	NP_001136243.1:n.4497+1556_4497+1559delinsGAAC
NM_001142772.1:c.4482+1556_4482+1559delinsGAAC	NP_001136244.1:n.4482+1556_4482+1559delinsGAAC
NM_001142769.2:c.5065_5068delinsGAAC	NP_001136241.1:p.Glu1689=
NM_001142770.2:c.*480_*483delinsGAAC	NP_001136242.1:n.*480_*483delinsGAAC
NM_001354411.1:c.5044_5047delinsGAAC	NP_001341340.1:p.Glu1682=
NM_001354420.1:c.4476+1556_4476+1559delinsGAAC	NP_001341349.1:n.4476+1556_4476+1559delinsGAAC
NM_001354429.1:c.4605+1556_4605+1559delinsGAAC	NP_001341358.1:n.4605+1556_4605+1559delinsGAAC
XM_017016573.2:c.5044_5047delinsGAAC	XP_016872062.1:p.Glu1682=
XR_001747192.2:n.10963+1556_10963+1559delinsGAAC
XR_001747193.2:n.10954+1556_10954+1559delinsGAAC
NM_001142769.3:c.5065_5068delinsGAAC	NP_001136241.1:p.Glu1689=
NM_001142770.3:c.*480_*483delinsGAAC	NP_001136242.1:n.*480_*483delinsGAAC
NM_001142771.2:c.4497+1556_4497+1559delinsGAAC	NP_001136243.1:n.4497+1556_4497+1559delinsGAAC
NM_001142772.2:c.4482+1556_4482+1559delinsGAAC	NP_001136244.1:n.4482+1556_4482+1559delinsGAAC
NM_001354411.2:c.5044_5047delinsGAAC	NP_001341340.1:p.Glu1682=
NM_001354420.2:c.4476+1556_4476+1559delinsGAAC	NP_001341349.1:n.4476+1556_4476+1559delinsGAAC
NM_001354429.2:c.4605+1556_4605+1559delinsGAAC	NP_001341358.1:n.4605+1556_4605+1559delinsGAAC
NM_001384140.1:c.4671+1556_4671+1559delinsGAAC MANE Select	NP_001371069.1:n.4671+1556_4671+1559delinsGAAC