Canonical Allele Identifier: CA1910762261

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53808994_53809003delinsTTTGTTCTTC , CM000672.2:g.53808994_53809003delinsTTTGTTCTTC	GRCh38
NC_000010.10:g.55568754_55568763delinsTTTGTTCTTC , CM000672.1:g.55568754_55568763delinsTTTGTTCTTC	GRCh37
NC_000010.9:g.55238760_55238769delinsTTTGTTCTTC	NCBI36
NG_009191.2:g.997289_997298delinsGAAGAACAAA
NG_009191.3:g.1825180_1825189delinsGAAGAACAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5062_5071delinsGAAGAACAAA	ENSP00000482794.1:p.Glu1688=
ENST00000395445.6:c.5041_5050delinsGAAGAACAAA	ENSP00000378832.2:p.Glu1681=
ENST00000613657.5:c.5062_5071delinsGAAGAACAAA	ENSP00000482794.1:p.Glu1688=
ENST00000642496.1:c.3530+1553_3530+1562delinsGAAGAACAAA
ENST00000644397.2:c.4671+1553_4671+1562delinsGAAGAACAAA MANE Select	ENSP00000495195.1:n.4671+1553_4671+1562delinsGAAGAACAAA
ENST00000373965.6:c.4482+1553_4482+1562delinsGAAGAACAAA	ENSP00000363076.3:n.4482+1553_4482+1562delinsGAAGAACAAA
ENST00000395438.5:c.*477_*486delinsGAAGAACAAA	ENSP00000378826.2:n.*477_*486delinsGAAGAACAAA
ENST00000395440.5:c.1849_1858delinsGAAGAACAAA	ENSP00000378827.1:p.Glu617=
ENST00000395442.5:c.1642_1651delinsGAAGAACAAA	ENSP00000378829.1:p.Glu548=
ENST00000395445.5:c.5041_5050delinsGAAGAACAAA	ENSP00000378832.2:p.Glu1681=
ENST00000395446.5:c.2635_2644delinsGAAGAACAAA	ENSP00000378833.1:p.Glu879=
ENST00000409834.5:c.*477_*486delinsGAAGAACAAA	ENSP00000386693.1:n.*477_*486delinsGAAGAACAAA
ENST00000414367.5:c.*1100_*1109delinsGAAGAACAAA	ENSP00000412531.1:n.*1100_*1109delinsGAAGAACAAA
ENST00000414778.5:c.4479+1553_4479+1562delinsGAAGAACAAA	ENSP00000410304.2:n.4479+1553_4479+1562delinsGAAGAACAAA
ENST00000476074.5:n.609+1553_609+1562delinsGAAGAACAAA
ENST00000495484.5:c.699+1553_699+1562delinsGAAGAACAAA	ENSP00000480780.1:n.699+1553_699+1562delinsGAAGAACAAA
ENST00000612394.4:c.5059_5068delinsGAAGAACAAA	ENSP00000482921.1:p.Glu1687=
ENST00000613657.4:c.5062_5071delinsGAAGAACAAA	ENSP00000482794.1:p.Glu1688=
ENST00000614895.4:c.4494+1553_4494+1562delinsGAAGAACAAA	ENSP00000478512.1:n.4494+1553_4494+1562delinsGAAGAACAAA
ENST00000615043.1:c.662_671delinsGAAGAACAAA
ENST00000616114.4:c.4476+1553_4476+1562delinsGAAGAACAAA	ENSP00000483745.1:n.4476+1553_4476+1562delinsGAAGAACAAA
ENST00000617271.4:c.*477_*486delinsGAAGAACAAA	ENSP00000478076.1:n.*477_*486delinsGAAGAACAAA
ENST00000618301.4:c.831+1553_831+1562delinsGAAGAACAAA	ENSP00000482780.1:n.831+1553_831+1562delinsGAAGAACAAA
ENST00000621708.4:c.4497+1553_4497+1562delinsGAAGAACAAA	ENSP00000484454.1:n.4497+1553_4497+1562delinsGAAGAACAAA
NM_001142769.1:c.5062_5071delinsGAAGAACAAA	NP_001136241.1:p.Glu1688=
NM_001142770.1:c.*477_*486delinsGAAGAACAAA	NP_001136242.1:n.*477_*486delinsGAAGAACAAA
NM_001142771.1:c.4497+1553_4497+1562delinsGAAGAACAAA	NP_001136243.1:n.4497+1553_4497+1562delinsGAAGAACAAA
NM_001142772.1:c.4482+1553_4482+1562delinsGAAGAACAAA	NP_001136244.1:n.4482+1553_4482+1562delinsGAAGAACAAA
NM_001142769.2:c.5062_5071delinsGAAGAACAAA	NP_001136241.1:p.Glu1688=
NM_001142770.2:c.*477_*486delinsGAAGAACAAA	NP_001136242.1:n.*477_*486delinsGAAGAACAAA
NM_001354411.1:c.5041_5050delinsGAAGAACAAA	NP_001341340.1:p.Glu1681=
NM_001354420.1:c.4476+1553_4476+1562delinsGAAGAACAAA	NP_001341349.1:n.4476+1553_4476+1562delinsGAAGAACAAA
NM_001354429.1:c.4605+1553_4605+1562delinsGAAGAACAAA	NP_001341358.1:n.4605+1553_4605+1562delinsGAAGAACAAA
XM_017016573.2:c.5041_5050delinsGAAGAACAAA	XP_016872062.1:p.Glu1681=
XR_001747192.2:n.10963+1553_10963+1562delinsGAAGAACAAA
XR_001747193.2:n.10954+1553_10954+1562delinsGAAGAACAAA
NM_001142769.3:c.5062_5071delinsGAAGAACAAA	NP_001136241.1:p.Glu1688=
NM_001142770.3:c.*477_*486delinsGAAGAACAAA	NP_001136242.1:n.*477_*486delinsGAAGAACAAA
NM_001142771.2:c.4497+1553_4497+1562delinsGAAGAACAAA	NP_001136243.1:n.4497+1553_4497+1562delinsGAAGAACAAA
NM_001142772.2:c.4482+1553_4482+1562delinsGAAGAACAAA	NP_001136244.1:n.4482+1553_4482+1562delinsGAAGAACAAA
NM_001354411.2:c.5041_5050delinsGAAGAACAAA	NP_001341340.1:p.Glu1681=
NM_001354420.2:c.4476+1553_4476+1562delinsGAAGAACAAA	NP_001341349.1:n.4476+1553_4476+1562delinsGAAGAACAAA
NM_001354429.2:c.4605+1553_4605+1562delinsGAAGAACAAA	NP_001341358.1:n.4605+1553_4605+1562delinsGAAGAACAAA
NM_001384140.1:c.4671+1553_4671+1562delinsGAAGAACAAA MANE Select	NP_001371069.1:n.4671+1553_4671+1562delinsGAAGAACAAA