Canonical Allele Identifier: CA912970263
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808967_53808970del , CM000672.2:g.53808967_53808970del GRCh38
NC_000010.10:g.55568727_55568730del , CM000672.1:g.55568727_55568730del GRCh37
NC_000010.9:g.55238733_55238736del NCBI36
NG_009191.2:g.997322_997325del
NG_009191.3:g.1825213_1825216del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5095_5098del ENSP00000482794.1:p.Glu1699ThrfsTer?
ENST00000395445.6:c.5074_5077del ENSP00000378832.2:p.Glu1692ThrfsTer?
ENST00000613657.5:c.5095_5098del ENSP00000482794.1:p.Glu1699ThrfsTer?
ENST00000642496.1:c.3530+1586_3530+1589del
ENST00000644397.2:c.4671+1586_4671+1589del MANE Select ENSP00000495195.1:n.4671+1586_4671+1589del
ENST00000373965.6:c.4482+1586_4482+1589del ENSP00000363076.3:n.4482+1586_4482+1589del
ENST00000395438.5:c.*510_*513del ENSP00000378826.2:n.*510_*513del
ENST00000395440.5:c.1882_1885del ENSP00000378827.1:p.Glu628ThrfsTer?
ENST00000395442.5:c.1675_1678del ENSP00000378829.1:p.Glu559ThrfsTer?
ENST00000395445.5:c.5074_5077del ENSP00000378832.2:p.Glu1692ThrfsTer?
ENST00000395446.5:c.2668_2671del ENSP00000378833.1:p.Glu890ThrfsTer?
ENST00000409834.5:c.*510_*513del ENSP00000386693.1:n.*510_*513del
ENST00000414367.5:c.*1133_*1136del ENSP00000412531.1:n.*1133_*1136del
ENST00000414778.5:c.4479+1586_4479+1589del ENSP00000410304.2:n.4479+1586_4479+1589del
ENST00000476074.5:n.609+1586_609+1589del
ENST00000495484.5:c.699+1586_699+1589del ENSP00000480780.1:n.699+1586_699+1589del
ENST00000612394.4:c.5092_5095del ENSP00000482921.1:p.Glu1698ThrfsTer?
ENST00000613657.4:c.5095_5098del ENSP00000482794.1:p.Glu1699ThrfsTer?
ENST00000614895.4:c.4494+1586_4494+1589del ENSP00000478512.1:n.4494+1586_4494+1589del
ENST00000615043.1:c.695_698del
ENST00000616114.4:c.4476+1586_4476+1589del ENSP00000483745.1:n.4476+1586_4476+1589del
ENST00000617271.4:c.*510_*513del ENSP00000478076.1:n.*510_*513del
ENST00000618301.4:c.831+1586_831+1589del ENSP00000482780.1:n.831+1586_831+1589del
ENST00000621708.4:c.4497+1586_4497+1589del ENSP00000484454.1:n.4497+1586_4497+1589del
NM_001142769.1:c.5095_5098del NP_001136241.1:p.Glu1699ThrfsTer?
NM_001142770.1:c.*510_*513del NP_001136242.1:n.*510_*513del
NM_001142771.1:c.4497+1586_4497+1589del NP_001136243.1:n.4497+1586_4497+1589del
NM_001142772.1:c.4482+1586_4482+1589del NP_001136244.1:n.4482+1586_4482+1589del
NM_001142769.2:c.5095_5098del NP_001136241.1:p.Glu1699ThrfsTer?
NM_001142770.2:c.*510_*513del NP_001136242.1:n.*510_*513del
NM_001354411.1:c.5074_5077del NP_001341340.1:p.Glu1692ThrfsTer?
NM_001354420.1:c.4476+1586_4476+1589del NP_001341349.1:n.4476+1586_4476+1589del
NM_001354429.1:c.4605+1586_4605+1589del NP_001341358.1:n.4605+1586_4605+1589del
XM_017016573.2:c.5074_5077del XP_016872062.1:p.Glu1692ThrfsTer?
XR_001747192.2:n.10963+1586_10963+1589del
XR_001747193.2:n.10954+1586_10954+1589del
NM_001142769.3:c.5095_5098del NP_001136241.1:p.Glu1699ThrfsTer?
NM_001142770.3:c.*510_*513del NP_001136242.1:n.*510_*513del
NM_001142771.2:c.4497+1586_4497+1589del NP_001136243.1:n.4497+1586_4497+1589del
NM_001142772.2:c.4482+1586_4482+1589del NP_001136244.1:n.4482+1586_4482+1589del
NM_001354411.2:c.5074_5077del NP_001341340.1:p.Glu1692ThrfsTer?
NM_001354420.2:c.4476+1586_4476+1589del NP_001341349.1:n.4476+1586_4476+1589del
NM_001354429.2:c.4605+1586_4605+1589del NP_001341358.1:n.4605+1586_4605+1589del
NM_001384140.1:c.4671+1586_4671+1589del MANE Select NP_001371069.1:n.4671+1586_4671+1589del