Canonical Allele Identifier: CA1910762360

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809031_53809040delinsTTCCTTGACC , CM000672.2:g.53809031_53809040delinsTTCCTTGACC	GRCh38
NC_000010.10:g.55568791_55568800delinsTTCCTTGACC , CM000672.1:g.55568791_55568800delinsTTCCTTGACC	GRCh37
NC_000010.9:g.55238797_55238806delinsTTCCTTGACC	NCBI36
NG_009191.2:g.997252_997261delinsGGTCAAGGAA
NG_009191.3:g.1825143_1825152delinsGGTCAAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5025_5034delinsGGTCAAGGAA	ENSP00000482794.1:p.Glu1675=
ENST00000395445.6:c.5004_5013delinsGGTCAAGGAA	ENSP00000378832.2:p.Glu1668=
ENST00000613657.5:c.5025_5034delinsGGTCAAGGAA	ENSP00000482794.1:p.Glu1675=
ENST00000642496.1:c.3530+1516_3530+1525delinsGGTCAAGGAA
ENST00000644397.2:c.4671+1516_4671+1525delinsGGTCAAGGAA MANE Select	ENSP00000495195.1:n.4671+1516_4671+1525delinsGGTCAAGGAA
ENST00000373965.6:c.4482+1516_4482+1525delinsGGTCAAGGAA	ENSP00000363076.3:n.4482+1516_4482+1525delinsGGTCAAGGAA
ENST00000395438.5:c.*440_*449delinsGGTCAAGGAA	ENSP00000378826.2:n.*440_*449delinsGGTCAAGGAA
ENST00000395440.5:c.1812_1821delinsGGTCAAGGAA	ENSP00000378827.1:p.Glu604=
ENST00000395442.5:c.1605_1614delinsGGTCAAGGAA	ENSP00000378829.1:p.Glu535=
ENST00000395445.5:c.5004_5013delinsGGTCAAGGAA	ENSP00000378832.2:p.Glu1668=
ENST00000395446.5:c.2598_2607delinsGGTCAAGGAA	ENSP00000378833.1:p.Glu866=
ENST00000409834.5:c.*440_*449delinsGGTCAAGGAA	ENSP00000386693.1:n.*440_*449delinsGGTCAAGGAA
ENST00000414367.5:c.*1063_*1072delinsGGTCAAGGAA	ENSP00000412531.1:n.*1063_*1072delinsGGTCAAGGAA
ENST00000414778.5:c.4479+1516_4479+1525delinsGGTCAAGGAA	ENSP00000410304.2:n.4479+1516_4479+1525delinsGGTCAAGGAA
ENST00000476074.5:n.609+1516_609+1525delinsGGTCAAGGAA
ENST00000495484.5:c.699+1516_699+1525delinsGGTCAAGGAA	ENSP00000480780.1:n.699+1516_699+1525delinsGGTCAAGGAA
ENST00000612394.4:c.5022_5031delinsGGTCAAGGAA	ENSP00000482921.1:p.Glu1674=
ENST00000613657.4:c.5025_5034delinsGGTCAAGGAA	ENSP00000482794.1:p.Glu1675=
ENST00000614895.4:c.4494+1516_4494+1525delinsGGTCAAGGAA	ENSP00000478512.1:n.4494+1516_4494+1525delinsGGTCAAGGAA
ENST00000615043.1:c.625_634delinsGGTCAAGGAA
ENST00000616114.4:c.4476+1516_4476+1525delinsGGTCAAGGAA	ENSP00000483745.1:n.4476+1516_4476+1525delinsGGTCAAGGAA
ENST00000617271.4:c.*440_*449delinsGGTCAAGGAA	ENSP00000478076.1:n.*440_*449delinsGGTCAAGGAA
ENST00000618301.4:c.831+1516_831+1525delinsGGTCAAGGAA	ENSP00000482780.1:n.831+1516_831+1525delinsGGTCAAGGAA
ENST00000621708.4:c.4497+1516_4497+1525delinsGGTCAAGGAA	ENSP00000484454.1:n.4497+1516_4497+1525delinsGGTCAAGGAA
NM_001142769.1:c.5025_5034delinsGGTCAAGGAA	NP_001136241.1:p.Glu1675=
NM_001142770.1:c.*440_*449delinsGGTCAAGGAA	NP_001136242.1:n.*440_*449delinsGGTCAAGGAA
NM_001142771.1:c.4497+1516_4497+1525delinsGGTCAAGGAA	NP_001136243.1:n.4497+1516_4497+1525delinsGGTCAAGGAA
NM_001142772.1:c.4482+1516_4482+1525delinsGGTCAAGGAA	NP_001136244.1:n.4482+1516_4482+1525delinsGGTCAAGGAA
NM_001142769.2:c.5025_5034delinsGGTCAAGGAA	NP_001136241.1:p.Glu1675=
NM_001142770.2:c.*440_*449delinsGGTCAAGGAA	NP_001136242.1:n.*440_*449delinsGGTCAAGGAA
NM_001354411.1:c.5004_5013delinsGGTCAAGGAA	NP_001341340.1:p.Glu1668=
NM_001354420.1:c.4476+1516_4476+1525delinsGGTCAAGGAA	NP_001341349.1:n.4476+1516_4476+1525delinsGGTCAAGGAA
NM_001354429.1:c.4605+1516_4605+1525delinsGGTCAAGGAA	NP_001341358.1:n.4605+1516_4605+1525delinsGGTCAAGGAA
XM_017016573.2:c.5004_5013delinsGGTCAAGGAA	XP_016872062.1:p.Glu1668=
XR_001747192.2:n.10963+1516_10963+1525delinsGGTCAAGGAA
XR_001747193.2:n.10954+1516_10954+1525delinsGGTCAAGGAA
NM_001142769.3:c.5025_5034delinsGGTCAAGGAA	NP_001136241.1:p.Glu1675=
NM_001142770.3:c.*440_*449delinsGGTCAAGGAA	NP_001136242.1:n.*440_*449delinsGGTCAAGGAA
NM_001142771.2:c.4497+1516_4497+1525delinsGGTCAAGGAA	NP_001136243.1:n.4497+1516_4497+1525delinsGGTCAAGGAA
NM_001142772.2:c.4482+1516_4482+1525delinsGGTCAAGGAA	NP_001136244.1:n.4482+1516_4482+1525delinsGGTCAAGGAA
NM_001354411.2:c.5004_5013delinsGGTCAAGGAA	NP_001341340.1:p.Glu1668=
NM_001354420.2:c.4476+1516_4476+1525delinsGGTCAAGGAA	NP_001341349.1:n.4476+1516_4476+1525delinsGGTCAAGGAA
NM_001354429.2:c.4605+1516_4605+1525delinsGGTCAAGGAA	NP_001341358.1:n.4605+1516_4605+1525delinsGGTCAAGGAA
NM_001384140.1:c.4671+1516_4671+1525delinsGGTCAAGGAA MANE Select	NP_001371069.1:n.4671+1516_4671+1525delinsGGTCAAGGAA