Canonical Allele Identifier: CA2788034651

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809101_53809104dup , CM000672.2:g.53809101_53809104dup	GRCh38
NC_000010.10:g.55568861_55568864dup , CM000672.1:g.55568861_55568864dup	GRCh37
NC_000010.9:g.55238867_55238870dup	NCBI36
NG_009191.2:g.997190_997193dup
NG_009191.3:g.1825081_1825084dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4963_4966dup	ENSP00000482794.1:p.Glu1656ValfsTer20
ENST00000395445.6:c.4942_4945dup	ENSP00000378832.2:p.Glu1649ValfsTer20
ENST00000613657.5:c.4963_4966dup	ENSP00000482794.1:p.Glu1656ValfsTer20
ENST00000642496.1:c.3530+1454_3530+1457dup
ENST00000644397.2:c.4671+1454_4671+1457dup MANE Select	ENSP00000495195.1:n.4671+1454_4671+1457dup
ENST00000373965.6:c.4482+1454_4482+1457dup	ENSP00000363076.3:n.4482+1454_4482+1457dup
ENST00000395438.5:c.*378_*381dup	ENSP00000378826.2:n.*378_*381dup
ENST00000395440.5:c.1750_1753dup	ENSP00000378827.1:p.Glu585ValfsTer20
ENST00000395442.5:c.1543_1546dup	ENSP00000378829.1:p.Glu516ValfsTer20
ENST00000395445.5:c.4942_4945dup	ENSP00000378832.2:p.Glu1649ValfsTer20
ENST00000395446.5:c.2536_2539dup	ENSP00000378833.1:p.Glu847ValfsTer20
ENST00000409834.5:c.*378_*381dup	ENSP00000386693.1:n.*378_*381dup
ENST00000414367.5:c.*1001_*1004dup	ENSP00000412531.1:n.*1001_*1004dup
ENST00000414778.5:c.4479+1454_4479+1457dup	ENSP00000410304.2:n.4479+1454_4479+1457dup
ENST00000476074.5:n.609+1454_609+1457dup
ENST00000495484.5:c.699+1454_699+1457dup	ENSP00000480780.1:n.699+1454_699+1457dup
ENST00000612394.4:c.4960_4963dup	ENSP00000482921.1:p.Glu1655ValfsTer20
ENST00000613657.4:c.4963_4966dup	ENSP00000482794.1:p.Glu1656ValfsTer20
ENST00000614895.4:c.4494+1454_4494+1457dup	ENSP00000478512.1:n.4494+1454_4494+1457dup
ENST00000615043.1:c.563_566dup
ENST00000616114.4:c.4476+1454_4476+1457dup	ENSP00000483745.1:n.4476+1454_4476+1457dup
ENST00000617271.4:c.*378_*381dup	ENSP00000478076.1:n.*378_*381dup
ENST00000618301.4:c.831+1454_831+1457dup	ENSP00000482780.1:n.831+1454_831+1457dup
ENST00000621708.4:c.4497+1454_4497+1457dup	ENSP00000484454.1:n.4497+1454_4497+1457dup
NM_001142769.1:c.4963_4966dup	NP_001136241.1:p.Glu1656ValfsTer20
NM_001142770.1:c.*378_*381dup	NP_001136242.1:n.*378_*381dup
NM_001142771.1:c.4497+1454_4497+1457dup	NP_001136243.1:n.4497+1454_4497+1457dup
NM_001142772.1:c.4482+1454_4482+1457dup	NP_001136244.1:n.4482+1454_4482+1457dup
NM_001142769.2:c.4963_4966dup	NP_001136241.1:p.Glu1656ValfsTer20
NM_001142770.2:c.*378_*381dup	NP_001136242.1:n.*378_*381dup
NM_001354411.1:c.4942_4945dup	NP_001341340.1:p.Glu1649ValfsTer20
NM_001354420.1:c.4476+1454_4476+1457dup	NP_001341349.1:n.4476+1454_4476+1457dup
NM_001354429.1:c.4605+1454_4605+1457dup	NP_001341358.1:n.4605+1454_4605+1457dup
XM_017016573.2:c.4942_4945dup	XP_016872062.1:p.Glu1649ValfsTer20
XR_001747192.2:n.10963+1454_10963+1457dup
XR_001747193.2:n.10954+1454_10954+1457dup
NM_001142769.3:c.4963_4966dup	NP_001136241.1:p.Glu1656ValfsTer20
NM_001142770.3:c.*378_*381dup	NP_001136242.1:n.*378_*381dup
NM_001142771.2:c.4497+1454_4497+1457dup	NP_001136243.1:n.4497+1454_4497+1457dup
NM_001142772.2:c.4482+1454_4482+1457dup	NP_001136244.1:n.4482+1454_4482+1457dup
NM_001354411.2:c.4942_4945dup	NP_001341340.1:p.Glu1649ValfsTer20
NM_001354420.2:c.4476+1454_4476+1457dup	NP_001341349.1:n.4476+1454_4476+1457dup
NM_001354429.2:c.4605+1454_4605+1457dup	NP_001341358.1:n.4605+1454_4605+1457dup
NM_001384140.1:c.4671+1454_4671+1457dup MANE Select	NP_001371069.1:n.4671+1454_4671+1457dup