Canonical Allele Identifier: CA2788034644
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808950_53808963del , CM000672.2:g.53808950_53808963del GRCh38
NC_000010.10:g.55568710_55568723del , CM000672.1:g.55568710_55568723del GRCh37
NC_000010.9:g.55238716_55238729del NCBI36
NG_009191.2:g.997329_997342del
NG_009191.3:g.1825220_1825233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5102_5115del ENSP00000482794.1:p.Ser1701Ter
ENST00000395445.6:c.5081_5094del ENSP00000378832.2:p.Ser1694Ter
ENST00000613657.5:c.5102_5115del ENSP00000482794.1:p.Ser1701Ter
ENST00000642496.1:c.3530+1593_3530+1606del
ENST00000644397.2:c.4671+1593_4671+1606del MANE Select ENSP00000495195.1:n.4671+1593_4671+1606del
ENST00000373965.6:c.4482+1593_4482+1606del ENSP00000363076.3:n.4482+1593_4482+1606del
ENST00000395438.5:c.*517_*530del ENSP00000378826.2:n.*517_*530del
ENST00000395440.5:c.1889_1902del ENSP00000378827.1:p.Ser630Ter
ENST00000395442.5:c.1682_1695del ENSP00000378829.1:p.Ser561Ter
ENST00000395445.5:c.5081_5094del ENSP00000378832.2:p.Ser1694Ter
ENST00000395446.5:c.2675_2688del ENSP00000378833.1:p.Ser892Ter
ENST00000409834.5:c.*517_*530del ENSP00000386693.1:n.*517_*530del
ENST00000414367.5:c.*1140_*1153del ENSP00000412531.1:n.*1140_*1153del
ENST00000414778.5:c.4479+1593_4479+1606del ENSP00000410304.2:n.4479+1593_4479+1606del
ENST00000476074.5:n.609+1593_609+1606del
ENST00000495484.5:c.699+1593_699+1606del ENSP00000480780.1:n.699+1593_699+1606del
ENST00000612394.4:c.5099_5112del ENSP00000482921.1:p.Ser1700Ter
ENST00000613657.4:c.5102_5115del ENSP00000482794.1:p.Ser1701Ter
ENST00000614895.4:c.4494+1593_4494+1606del ENSP00000478512.1:n.4494+1593_4494+1606del
ENST00000615043.1:c.702_715del
ENST00000616114.4:c.4476+1593_4476+1606del ENSP00000483745.1:n.4476+1593_4476+1606del
ENST00000617271.4:c.*517_*530del ENSP00000478076.1:n.*517_*530del
ENST00000618301.4:c.831+1593_831+1606del ENSP00000482780.1:n.831+1593_831+1606del
ENST00000621708.4:c.4497+1593_4497+1606del ENSP00000484454.1:n.4497+1593_4497+1606del
NM_001142769.1:c.5102_5115del NP_001136241.1:p.Ser1701Ter
NM_001142770.1:c.*517_*530del NP_001136242.1:n.*517_*530del
NM_001142771.1:c.4497+1593_4497+1606del NP_001136243.1:n.4497+1593_4497+1606del
NM_001142772.1:c.4482+1593_4482+1606del NP_001136244.1:n.4482+1593_4482+1606del
NM_001142769.2:c.5102_5115del NP_001136241.1:p.Ser1701Ter
NM_001142770.2:c.*517_*530del NP_001136242.1:n.*517_*530del
NM_001354411.1:c.5081_5094del NP_001341340.1:p.Ser1694Ter
NM_001354420.1:c.4476+1593_4476+1606del NP_001341349.1:n.4476+1593_4476+1606del
NM_001354429.1:c.4605+1593_4605+1606del NP_001341358.1:n.4605+1593_4605+1606del
XM_017016573.2:c.5081_5094del XP_016872062.1:p.Ser1694Ter
XR_001747192.2:n.10963+1593_10963+1606del
XR_001747193.2:n.10954+1593_10954+1606del
NM_001142769.3:c.5102_5115del NP_001136241.1:p.Ser1701Ter
NM_001142770.3:c.*517_*530del NP_001136242.1:n.*517_*530del
NM_001142771.2:c.4497+1593_4497+1606del NP_001136243.1:n.4497+1593_4497+1606del
NM_001142772.2:c.4482+1593_4482+1606del NP_001136244.1:n.4482+1593_4482+1606del
NM_001354411.2:c.5081_5094del NP_001341340.1:p.Ser1694Ter
NM_001354420.2:c.4476+1593_4476+1606del NP_001341349.1:n.4476+1593_4476+1606del
NM_001354429.2:c.4605+1593_4605+1606del NP_001341358.1:n.4605+1593_4605+1606del
NM_001384140.1:c.4671+1593_4671+1606del MANE Select NP_001371069.1:n.4671+1593_4671+1606del