Canonical Allele Identifier: CA1910763289
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53809388_53809422delinsTCTAACTTTCTTAAAAATCATGGGGAATATTCTGG , CM000672.2:g.53809388_53809422delinsTCTAACTTTCTTAAAAATCATGGGGAATATTCTGG GRCh38
NC_000010.10:g.55569148_55569182delinsTCTAACTTTCTTAAAAATCATGGGGAATATTCTGG , CM000672.1:g.55569148_55569182delinsTCTAACTTTCTTAAAAATCATGGGGAATATTCTGG GRCh37
NC_000010.9:g.55239154_55239188delinsTCTAACTTTCTTAAAAATCATGGGGAATATTCTGG NCBI36
NG_009191.2:g.996870_996904delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA
NG_009191.3:g.1824761_1824795delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4643_4677delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000482794.1:p.Ala1548=
ENST00000395445.6:c.4622_4656delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000378832.2:p.Ala1541=
ENST00000613657.5:c.4643_4677delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000482794.1:p.Ala1548=
ENST00000642496.1:c.3530+1134_3530+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA
ENST00000644397.2:c.4671+1134_4671+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA MANE Select ENSP00000495195.1:n.4671+1134_4671+1168delinsCCAGAATATTCCCCAT...
ENST00000373965.6:c.4482+1134_4482+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000363076.3:n.4482+1134_4482+1168delinsCCAGAATATTCCCCAT...
ENST00000395438.5:c.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000378826.2:n.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAA...
ENST00000395440.5:c.1430_1464delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000378827.1:p.Ala477=
ENST00000395442.5:c.1223_1257delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000378829.1:p.Ala408=
ENST00000395445.5:c.4622_4656delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000378832.2:p.Ala1541=
ENST00000395446.5:c.2216_2250delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000378833.1:p.Ala739=
ENST00000409834.5:c.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000386693.1:n.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAA...
ENST00000414367.5:c.*681_*715delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000412531.1:n.*681_*715delinsCCAGAATATTCCCCATGATTTTTAAG...
ENST00000414778.5:c.4479+1134_4479+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000410304.2:n.4479+1134_4479+1168delinsCCAGAATATTCCCCAT...
ENST00000476074.5:n.609+1134_609+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA
ENST00000495484.5:c.699+1134_699+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000480780.1:n.699+1134_699+1168delinsCCAGAATATTCCCCATGA...
ENST00000612394.4:c.4640_4674delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000482921.1:p.Ala1547=
ENST00000613657.4:c.4643_4677delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000482794.1:p.Ala1548=
ENST00000614895.4:c.4494+1134_4494+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000478512.1:n.4494+1134_4494+1168delinsCCAGAATATTCCCCAT...
ENST00000615043.1:c.243_277delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA
ENST00000616114.4:c.4476+1134_4476+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000483745.1:n.4476+1134_4476+1168delinsCCAGAATATTCCCCAT...
ENST00000617271.4:c.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000478076.1:n.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAA...
ENST00000618301.4:c.831+1134_831+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000482780.1:n.831+1134_831+1168delinsCCAGAATATTCCCCATGA...
ENST00000621708.4:c.4497+1134_4497+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA ENSP00000484454.1:n.4497+1134_4497+1168delinsCCAGAATATTCCCCAT...
NM_001142769.1:c.4643_4677delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001136241.1:p.Ala1548=
NM_001142770.1:c.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001136242.1:n.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAAAGT...
NM_001142771.1:c.4497+1134_4497+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001136243.1:n.4497+1134_4497+1168delinsCCAGAATATTCCCCATGAT...
NM_001142772.1:c.4482+1134_4482+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001136244.1:n.4482+1134_4482+1168delinsCCAGAATATTCCCCATGAT...
NM_001142769.2:c.4643_4677delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001136241.1:p.Ala1548=
NM_001142770.2:c.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001136242.1:n.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAAAGT...
NM_001354411.1:c.4622_4656delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001341340.1:p.Ala1541=
NM_001354420.1:c.4476+1134_4476+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001341349.1:n.4476+1134_4476+1168delinsCCAGAATATTCCCCATGAT...
NM_001354429.1:c.4605+1134_4605+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001341358.1:n.4605+1134_4605+1168delinsCCAGAATATTCCCCATGAT...
XM_017016573.2:c.4622_4656delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA XP_016872062.1:p.Ala1541=
XR_001747192.2:n.10963+1134_10963+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA
XR_001747193.2:n.10954+1134_10954+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA
NM_001142769.3:c.4643_4677delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001136241.1:p.Ala1548=
NM_001142770.3:c.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001136242.1:n.*58_*92delinsCCAGAATATTCCCCATGATTTTTAAGAAAGT...
NM_001142771.2:c.4497+1134_4497+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001136243.1:n.4497+1134_4497+1168delinsCCAGAATATTCCCCATGAT...
NM_001142772.2:c.4482+1134_4482+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001136244.1:n.4482+1134_4482+1168delinsCCAGAATATTCCCCATGAT...
NM_001354411.2:c.4622_4656delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001341340.1:p.Ala1541=
NM_001354420.2:c.4476+1134_4476+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001341349.1:n.4476+1134_4476+1168delinsCCAGAATATTCCCCATGAT...
NM_001354429.2:c.4605+1134_4605+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA NP_001341358.1:n.4605+1134_4605+1168delinsCCAGAATATTCCCCATGAT...
NM_001384140.1:c.4671+1134_4671+1168delinsCCAGAATATTCCCCATGATTTTTAAGAAAGTTAGA MANE Select NP_001371069.1:n.4671+1134_4671+1168delinsCCAGAATATTCCCCATGAT...