Canonical Allele Identifier: CA2516470839
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808966dup , CM000672.2:g.53808966dup GRCh38
NC_000010.10:g.55568726dup , CM000672.1:g.55568726dup GRCh37
NC_000010.9:g.55238732dup NCBI36
NG_009191.2:g.997326dup
NG_009191.3:g.1825217dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5099dup ENSP00000482794.1:p.His1700GlnfsTer19
ENST00000395445.6:c.5078dup ENSP00000378832.2:p.His1693GlnfsTer19
ENST00000613657.5:c.5099dup ENSP00000482794.1:p.His1700GlnfsTer19
ENST00000642496.1:c.3530+1590dup
ENST00000644397.2:c.4671+1590dup MANE Select ENSP00000495195.1:n.4671+1590dup
ENST00000373965.6:c.4482+1590dup ENSP00000363076.3:n.4482+1590dup
ENST00000395438.5:c.*514dup ENSP00000378826.2:n.*514dup
ENST00000395440.5:c.1886dup ENSP00000378827.1:p.His629GlnfsTer19
ENST00000395442.5:c.1679dup ENSP00000378829.1:p.His560GlnfsTer19
ENST00000395445.5:c.5078dup ENSP00000378832.2:p.His1693GlnfsTer19
ENST00000395446.5:c.2672dup ENSP00000378833.1:p.His891GlnfsTer19
ENST00000409834.5:c.*514dup ENSP00000386693.1:n.*514dup
ENST00000414367.5:c.*1137dup ENSP00000412531.1:n.*1137dup
ENST00000414778.5:c.4479+1590dup ENSP00000410304.2:n.4479+1590dup
ENST00000476074.5:n.609+1590dup
ENST00000495484.5:c.699+1590dup ENSP00000480780.1:n.699+1590dup
ENST00000612394.4:c.5096dup ENSP00000482921.1:p.His1699GlnfsTer19
ENST00000613657.4:c.5099dup ENSP00000482794.1:p.His1700GlnfsTer19
ENST00000614895.4:c.4494+1590dup ENSP00000478512.1:n.4494+1590dup
ENST00000615043.1:c.699dup
ENST00000616114.4:c.4476+1590dup ENSP00000483745.1:n.4476+1590dup
ENST00000617271.4:c.*514dup ENSP00000478076.1:n.*514dup
ENST00000618301.4:c.831+1590dup ENSP00000482780.1:n.831+1590dup
ENST00000621708.4:c.4497+1590dup ENSP00000484454.1:n.4497+1590dup
NM_001142769.1:c.5099dup NP_001136241.1:p.His1700GlnfsTer19
NM_001142770.1:c.*514dup NP_001136242.1:n.*514dup
NM_001142771.1:c.4497+1590dup NP_001136243.1:n.4497+1590dup
NM_001142772.1:c.4482+1590dup NP_001136244.1:n.4482+1590dup
NM_001142769.2:c.5099dup NP_001136241.1:p.His1700GlnfsTer19
NM_001142770.2:c.*514dup NP_001136242.1:n.*514dup
NM_001354411.1:c.5078dup NP_001341340.1:p.His1693GlnfsTer19
NM_001354420.1:c.4476+1590dup NP_001341349.1:n.4476+1590dup
NM_001354429.1:c.4605+1590dup NP_001341358.1:n.4605+1590dup
XM_017016573.2:c.5078dup XP_016872062.1:p.His1693GlnfsTer19
XR_001747192.2:n.10963+1590dup
XR_001747193.2:n.10954+1590dup
NM_001142769.3:c.5099dup NP_001136241.1:p.His1700GlnfsTer19
NM_001142770.3:c.*514dup NP_001136242.1:n.*514dup
NM_001142771.2:c.4497+1590dup NP_001136243.1:n.4497+1590dup
NM_001142772.2:c.4482+1590dup NP_001136244.1:n.4482+1590dup
NM_001354411.2:c.5078dup NP_001341340.1:p.His1693GlnfsTer19
NM_001354420.2:c.4476+1590dup NP_001341349.1:n.4476+1590dup
NM_001354429.2:c.4605+1590dup NP_001341358.1:n.4605+1590dup
NM_001384140.1:c.4671+1590dup MANE Select NP_001371069.1:n.4671+1590dup