Canonical Allele Identifier: CA912970262
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808918_53808939del , CM000672.2:g.53808918_53808939del GRCh38
NC_000010.10:g.55568678_55568699del , CM000672.1:g.55568678_55568699del GRCh37
NC_000010.9:g.55238684_55238705del NCBI36
NG_009191.2:g.997356_997377del
NG_009191.3:g.1825247_1825268del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5129_5150del ENSP00000482794.1:p.Pro1710LeufsTer?
ENST00000395445.6:c.5108_5129del ENSP00000378832.2:p.Pro1703LeufsTer?
ENST00000613657.5:c.5129_5150del ENSP00000482794.1:p.Pro1710LeufsTer?
ENST00000642496.1:c.3530+1620_3530+1641del
ENST00000644397.2:c.4671+1620_4671+1641del MANE Select ENSP00000495195.1:n.4671+1620_4671+1641del
ENST00000373965.6:c.4482+1620_4482+1641del ENSP00000363076.3:n.4482+1620_4482+1641del
ENST00000395438.5:c.*544_*565del ENSP00000378826.2:n.*544_*565del
ENST00000395440.5:c.1916_1937del ENSP00000378827.1:p.Pro639LeufsTer?
ENST00000395442.5:c.1709_1730del ENSP00000378829.1:p.Pro570LeufsTer?
ENST00000395445.5:c.5108_5129del ENSP00000378832.2:p.Pro1703LeufsTer?
ENST00000395446.5:c.2702_2723del ENSP00000378833.1:p.Pro901LeufsTer?
ENST00000409834.5:c.*544_*565del ENSP00000386693.1:n.*544_*565del
ENST00000414367.5:c.*1167_*1188del ENSP00000412531.1:n.*1167_*1188del
ENST00000414778.5:c.4479+1620_4479+1641del ENSP00000410304.2:n.4479+1620_4479+1641del
ENST00000476074.5:n.609+1620_609+1641del
ENST00000495484.5:c.699+1620_699+1641del ENSP00000480780.1:n.699+1620_699+1641del
ENST00000612394.4:c.5126_5147del ENSP00000482921.1:p.Pro1709LeufsTer?
ENST00000613657.4:c.5129_5150del ENSP00000482794.1:p.Pro1710LeufsTer?
ENST00000614895.4:c.4494+1620_4494+1641del ENSP00000478512.1:n.4494+1620_4494+1641del
ENST00000615043.1:c.729_750del
ENST00000616114.4:c.4476+1620_4476+1641del ENSP00000483745.1:n.4476+1620_4476+1641del
ENST00000617271.4:c.*544_*565del ENSP00000478076.1:n.*544_*565del
ENST00000618301.4:c.831+1620_831+1641del ENSP00000482780.1:n.831+1620_831+1641del
ENST00000621708.4:c.4497+1620_4497+1641del ENSP00000484454.1:n.4497+1620_4497+1641del
NM_001142769.1:c.5129_5150del NP_001136241.1:p.Pro1710LeufsTer?
NM_001142770.1:c.*544_*565del NP_001136242.1:n.*544_*565del
NM_001142771.1:c.4497+1620_4497+1641del NP_001136243.1:n.4497+1620_4497+1641del
NM_001142772.1:c.4482+1620_4482+1641del NP_001136244.1:n.4482+1620_4482+1641del
NM_001142769.2:c.5129_5150del NP_001136241.1:p.Pro1710LeufsTer?
NM_001142770.2:c.*544_*565del NP_001136242.1:n.*544_*565del
NM_001354411.1:c.5108_5129del NP_001341340.1:p.Pro1703LeufsTer?
NM_001354420.1:c.4476+1620_4476+1641del NP_001341349.1:n.4476+1620_4476+1641del
NM_001354429.1:c.4605+1620_4605+1641del NP_001341358.1:n.4605+1620_4605+1641del
XM_017016573.2:c.5108_5129del XP_016872062.1:p.Pro1703LeufsTer?
XR_001747192.2:n.10963+1620_10963+1641del
XR_001747193.2:n.10954+1620_10954+1641del
NM_001142769.3:c.5129_5150del NP_001136241.1:p.Pro1710LeufsTer?
NM_001142770.3:c.*544_*565del NP_001136242.1:n.*544_*565del
NM_001142771.2:c.4497+1620_4497+1641del NP_001136243.1:n.4497+1620_4497+1641del
NM_001142772.2:c.4482+1620_4482+1641del NP_001136244.1:n.4482+1620_4482+1641del
NM_001354411.2:c.5108_5129del NP_001341340.1:p.Pro1703LeufsTer?
NM_001354420.2:c.4476+1620_4476+1641del NP_001341349.1:n.4476+1620_4476+1641del
NM_001354429.2:c.4605+1620_4605+1641del NP_001341358.1:n.4605+1620_4605+1641del
NM_001384140.1:c.4671+1620_4671+1641del MANE Select NP_001371069.1:n.4671+1620_4671+1641del