Canonical Allele Identifier: CA1910762026
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs2075760986

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808927_53808930del , CM000672.2:g.53808927_53808930del GRCh38
NC_000010.10:g.55568687_55568690del , CM000672.1:g.55568687_55568690del GRCh37
NC_000010.9:g.55238693_55238696del NCBI36
NG_009191.2:g.997365_997368del
NG_009191.3:g.1825256_1825259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5138_5141del ENSP00000482794.1:p.Glu1713ValfsTer?
ENST00000395445.6:c.5117_5120del ENSP00000378832.2:p.Glu1706ValfsTer?
ENST00000613657.5:c.5138_5141del ENSP00000482794.1:p.Glu1713ValfsTer?
ENST00000642496.1:c.3530+1629_3530+1632del
ENST00000644397.2:c.4671+1629_4671+1632del MANE Select ENSP00000495195.1:n.4671+1629_4671+1632del
ENST00000373965.6:c.4482+1629_4482+1632del ENSP00000363076.3:n.4482+1629_4482+1632del
ENST00000395438.5:c.*553_*556del ENSP00000378826.2:n.*553_*556del
ENST00000395440.5:c.1925_1928del ENSP00000378827.1:p.Glu642ValfsTer?
ENST00000395442.5:c.1718_1721del ENSP00000378829.1:p.Glu573ValfsTer?
ENST00000395445.5:c.5117_5120del ENSP00000378832.2:p.Glu1706ValfsTer?
ENST00000395446.5:c.2711_2714del ENSP00000378833.1:p.Glu904ValfsTer?
ENST00000409834.5:c.*553_*556del ENSP00000386693.1:n.*553_*556del
ENST00000414367.5:c.*1176_*1179del ENSP00000412531.1:n.*1176_*1179del
ENST00000414778.5:c.4479+1629_4479+1632del ENSP00000410304.2:n.4479+1629_4479+1632del
ENST00000476074.5:n.609+1629_609+1632del
ENST00000495484.5:c.699+1629_699+1632del ENSP00000480780.1:n.699+1629_699+1632del
ENST00000612394.4:c.5135_5138del ENSP00000482921.1:p.Glu1712ValfsTer?
ENST00000613657.4:c.5138_5141del ENSP00000482794.1:p.Glu1713ValfsTer?
ENST00000614895.4:c.4494+1629_4494+1632del ENSP00000478512.1:n.4494+1629_4494+1632del
ENST00000615043.1:c.738_741del
ENST00000616114.4:c.4476+1629_4476+1632del ENSP00000483745.1:n.4476+1629_4476+1632del
ENST00000617271.4:c.*553_*556del ENSP00000478076.1:n.*553_*556del
ENST00000618301.4:c.831+1629_831+1632del ENSP00000482780.1:n.831+1629_831+1632del
ENST00000621708.4:c.4497+1629_4497+1632del ENSP00000484454.1:n.4497+1629_4497+1632del
NM_001142769.1:c.5138_5141del NP_001136241.1:p.Glu1713ValfsTer?
NM_001142770.1:c.*553_*556del NP_001136242.1:n.*553_*556del
NM_001142771.1:c.4497+1629_4497+1632del NP_001136243.1:n.4497+1629_4497+1632del
NM_001142772.1:c.4482+1629_4482+1632del NP_001136244.1:n.4482+1629_4482+1632del
NM_001142769.2:c.5138_5141del NP_001136241.1:p.Glu1713ValfsTer?
NM_001142770.2:c.*553_*556del NP_001136242.1:n.*553_*556del
NM_001354411.1:c.5117_5120del NP_001341340.1:p.Glu1706ValfsTer?
NM_001354420.1:c.4476+1629_4476+1632del NP_001341349.1:n.4476+1629_4476+1632del
NM_001354429.1:c.4605+1629_4605+1632del NP_001341358.1:n.4605+1629_4605+1632del
XM_017016573.2:c.5117_5120del XP_016872062.1:p.Glu1706ValfsTer?
XR_001747192.2:n.10963+1629_10963+1632del
XR_001747193.2:n.10954+1629_10954+1632del
NM_001142769.3:c.5138_5141del NP_001136241.1:p.Glu1713ValfsTer?
NM_001142770.3:c.*553_*556del NP_001136242.1:n.*553_*556del
NM_001142771.2:c.4497+1629_4497+1632del NP_001136243.1:n.4497+1629_4497+1632del
NM_001142772.2:c.4482+1629_4482+1632del NP_001136244.1:n.4482+1629_4482+1632del
NM_001354411.2:c.5117_5120del NP_001341340.1:p.Glu1706ValfsTer?
NM_001354420.2:c.4476+1629_4476+1632del NP_001341349.1:n.4476+1629_4476+1632del
NM_001354429.2:c.4605+1629_4605+1632del NP_001341358.1:n.4605+1629_4605+1632del
NM_001384140.1:c.4671+1629_4671+1632del MANE Select NP_001371069.1:n.4671+1629_4671+1632del