Canonical Allele Identifier: CA2609218878
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808882_53808929dup , CM000672.2:g.53808882_53808929dup GRCh38
NC_000010.10:g.55568642_55568689dup , CM000672.1:g.55568642_55568689dup GRCh37
NC_000010.9:g.55238648_55238695dup NCBI36
NG_009191.2:g.997367_997414dup
NG_009191.3:g.1825258_1825305dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5140_5187dup ENSP00000482794.1:p.Glu1729_Ser1730insSerThrAspProGluAlaGlnAs...
ENST00000395445.6:c.5119_5166dup ENSP00000378832.2:p.Glu1722_Ser1723insSerThrAspProGluAlaGlnAs...
ENST00000613657.5:c.5140_5187dup ENSP00000482794.1:p.Glu1729_Ser1730insSerThrAspProGluAlaGlnAs...
ENST00000642496.1:c.3530+1631_3530+1678dup
ENST00000644397.2:c.4671+1631_4671+1678dup MANE Select ENSP00000495195.1:n.4671+1631_4671+1678dup
ENST00000373965.6:c.4482+1631_4482+1678dup ENSP00000363076.3:n.4482+1631_4482+1678dup
ENST00000395438.5:c.*555_*602dup ENSP00000378826.2:n.*555_*602dup
ENST00000395440.5:c.1927_1974dup ENSP00000378827.1:p.Glu658_Ser659insSerThrAspProGluAlaGlnAspI...
ENST00000395442.5:c.1720_1767dup ENSP00000378829.1:p.Glu589_Ser590insSerThrAspProGluAlaGlnAspI...
ENST00000395445.5:c.5119_5166dup ENSP00000378832.2:p.Glu1722_Ser1723insSerThrAspProGluAlaGlnAs...
ENST00000395446.5:c.2713_2760dup ENSP00000378833.1:p.Glu920_Ser921insSerThrAspProGluAlaGlnAspI...
ENST00000409834.5:c.*555_*602dup ENSP00000386693.1:n.*555_*602dup
ENST00000414367.5:c.*1178_*1225dup ENSP00000412531.1:n.*1178_*1225dup
ENST00000414778.5:c.4479+1631_4479+1678dup ENSP00000410304.2:n.4479+1631_4479+1678dup
ENST00000476074.5:n.609+1631_609+1678dup
ENST00000495484.5:c.699+1631_699+1678dup ENSP00000480780.1:n.699+1631_699+1678dup
ENST00000612394.4:c.5137_5184dup ENSP00000482921.1:p.Glu1728_Ser1729insSerThrAspProGluAlaGlnAs...
ENST00000613657.4:c.5140_5187dup ENSP00000482794.1:p.Glu1729_Ser1730insSerThrAspProGluAlaGlnAs...
ENST00000614895.4:c.4494+1631_4494+1678dup ENSP00000478512.1:n.4494+1631_4494+1678dup
ENST00000615043.1:c.740_787dup
ENST00000616114.4:c.4476+1631_4476+1678dup ENSP00000483745.1:n.4476+1631_4476+1678dup
ENST00000617271.4:c.*555_*602dup ENSP00000478076.1:n.*555_*602dup
ENST00000618301.4:c.831+1631_831+1678dup ENSP00000482780.1:n.831+1631_831+1678dup
ENST00000621708.4:c.4497+1631_4497+1678dup ENSP00000484454.1:n.4497+1631_4497+1678dup
NM_001142769.1:c.5140_5187dup NP_001136241.1:p.Glu1729_Ser1730insSerThrAspProGluAlaGlnAspIl...
NM_001142770.1:c.*555_*602dup NP_001136242.1:n.*555_*602dup
NM_001142771.1:c.4497+1631_4497+1678dup NP_001136243.1:n.4497+1631_4497+1678dup
NM_001142772.1:c.4482+1631_4482+1678dup NP_001136244.1:n.4482+1631_4482+1678dup
NM_001142769.2:c.5140_5187dup NP_001136241.1:p.Glu1729_Ser1730insSerThrAspProGluAlaGlnAspIl...
NM_001142770.2:c.*555_*602dup NP_001136242.1:n.*555_*602dup
NM_001354411.1:c.5119_5166dup NP_001341340.1:p.Glu1722_Ser1723insSerThrAspProGluAlaGlnAspIl...
NM_001354420.1:c.4476+1631_4476+1678dup NP_001341349.1:n.4476+1631_4476+1678dup
NM_001354429.1:c.4605+1631_4605+1678dup NP_001341358.1:n.4605+1631_4605+1678dup
XM_017016573.2:c.5119_5166dup XP_016872062.1:p.Glu1722_Ser1723insSerThrAspProGluAlaGlnAspIl...
XR_001747192.2:n.10963+1631_10963+1678dup
XR_001747193.2:n.10954+1631_10954+1678dup
NM_001142769.3:c.5140_5187dup NP_001136241.1:p.Glu1729_Ser1730insSerThrAspProGluAlaGlnAspIl...
NM_001142770.3:c.*555_*602dup NP_001136242.1:n.*555_*602dup
NM_001142771.2:c.4497+1631_4497+1678dup NP_001136243.1:n.4497+1631_4497+1678dup
NM_001142772.2:c.4482+1631_4482+1678dup NP_001136244.1:n.4482+1631_4482+1678dup
NM_001354411.2:c.5119_5166dup NP_001341340.1:p.Glu1722_Ser1723insSerThrAspProGluAlaGlnAspIl...
NM_001354420.2:c.4476+1631_4476+1678dup NP_001341349.1:n.4476+1631_4476+1678dup
NM_001354429.2:c.4605+1631_4605+1678dup NP_001341358.1:n.4605+1631_4605+1678dup
NM_001384140.1:c.4671+1631_4671+1678dup MANE Select NP_001371069.1:n.4671+1631_4671+1678dup