Canonical Allele Identifier: CA2609218879
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808914dup , CM000672.2:g.53808914dup GRCh38
NC_000010.10:g.55568674dup , CM000672.1:g.55568674dup GRCh37
NC_000010.9:g.55238680dup NCBI36
NG_009191.2:g.997378dup
NG_009191.3:g.1825269dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5151dup ENSP00000482794.1:p.Glu1718Ter
ENST00000395445.6:c.5130dup ENSP00000378832.2:p.Glu1711Ter
ENST00000613657.5:c.5151dup ENSP00000482794.1:p.Glu1718Ter
ENST00000642496.1:c.3530+1642dup
ENST00000644397.2:c.4671+1642dup MANE Select ENSP00000495195.1:n.4671+1642dup
ENST00000373965.6:c.4482+1642dup ENSP00000363076.3:n.4482+1642dup
ENST00000395438.5:c.*566dup ENSP00000378826.2:n.*566dup
ENST00000395440.5:c.1938dup ENSP00000378827.1:p.Glu647Ter
ENST00000395442.5:c.1731dup ENSP00000378829.1:p.Glu578Ter
ENST00000395445.5:c.5130dup ENSP00000378832.2:p.Glu1711Ter
ENST00000395446.5:c.2724dup ENSP00000378833.1:p.Glu909Ter
ENST00000409834.5:c.*566dup ENSP00000386693.1:n.*566dup
ENST00000414367.5:c.*1189dup ENSP00000412531.1:n.*1189dup
ENST00000414778.5:c.4479+1642dup ENSP00000410304.2:n.4479+1642dup
ENST00000476074.5:n.609+1642dup
ENST00000495484.5:c.699+1642dup ENSP00000480780.1:n.699+1642dup
ENST00000612394.4:c.5148dup ENSP00000482921.1:p.Glu1717Ter
ENST00000613657.4:c.5151dup ENSP00000482794.1:p.Glu1718Ter
ENST00000614895.4:c.4494+1642dup ENSP00000478512.1:n.4494+1642dup
ENST00000615043.1:c.751dup
ENST00000616114.4:c.4476+1642dup ENSP00000483745.1:n.4476+1642dup
ENST00000617271.4:c.*566dup ENSP00000478076.1:n.*566dup
ENST00000618301.4:c.831+1642dup ENSP00000482780.1:n.831+1642dup
ENST00000621708.4:c.4497+1642dup ENSP00000484454.1:n.4497+1642dup
NM_001142769.1:c.5151dup NP_001136241.1:p.Glu1718Ter
NM_001142770.1:c.*566dup NP_001136242.1:n.*566dup
NM_001142771.1:c.4497+1642dup NP_001136243.1:n.4497+1642dup
NM_001142772.1:c.4482+1642dup NP_001136244.1:n.4482+1642dup
NM_001142769.2:c.5151dup NP_001136241.1:p.Glu1718Ter
NM_001142770.2:c.*566dup NP_001136242.1:n.*566dup
NM_001354411.1:c.5130dup NP_001341340.1:p.Glu1711Ter
NM_001354420.1:c.4476+1642dup NP_001341349.1:n.4476+1642dup
NM_001354429.1:c.4605+1642dup NP_001341358.1:n.4605+1642dup
XM_017016573.2:c.5130dup XP_016872062.1:p.Glu1711Ter
XR_001747192.2:n.10963+1642dup
XR_001747193.2:n.10954+1642dup
NM_001142769.3:c.5151dup NP_001136241.1:p.Glu1718Ter
NM_001142770.3:c.*566dup NP_001136242.1:n.*566dup
NM_001142771.2:c.4497+1642dup NP_001136243.1:n.4497+1642dup
NM_001142772.2:c.4482+1642dup NP_001136244.1:n.4482+1642dup
NM_001354411.2:c.5130dup NP_001341340.1:p.Glu1711Ter
NM_001354420.2:c.4476+1642dup NP_001341349.1:n.4476+1642dup
NM_001354429.2:c.4605+1642dup NP_001341358.1:n.4605+1642dup
NM_001384140.1:c.4671+1642dup MANE Select NP_001371069.1:n.4671+1642dup