Canonical Allele Identifier: CA10413870
Gene: CLCN5 HGNC NCBI

Linked Data

dbSNP Id: rs781982524

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50086706_50086707insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG , CM000685.2:g.50086706_50086707insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG GRCh38
NC_000023.10:g.49851363_49851364insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG , CM000685.1:g.49851363_49851364insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG GRCh37
NC_000023.9:g.49738103_49738104insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG NCBI36
NG_007159.3:g.169091_169092insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000376091.8:c.1393_1394insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG MANE Select ENSP00000365259.3:p.Leu465ArgfsTer10
ENST00000642383.1:c.643_644insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG ENSP00000496353.1:p.Leu215ArgfsTer10
ENST00000642885.1:c.1183_1184insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG ENSP00000496632.1:p.Leu395ArgfsTer10
ENST00000643129.1:c.1680_1681insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG
ENST00000646398.1:c.*568_*569insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG ENSP00000495122.1:n.*568_*569insGGCTGCAGCAGCAGCTGGTGTATCTGTAG...
ENST00000307367.2:c.1183_1184insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG ENSP00000304257.2:p.Leu395ArgfsTer10
ENST00000376088.7:c.1393_1394insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG ENSP00000365256.3:p.Leu465ArgfsTer10
ENST00000376091.7:c.1393_1394insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG ENSP00000365259.3:p.Leu465ArgfsTer10
ENST00000376108.7:c.1183_1184insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG ENSP00000365276.3:p.Leu395ArgfsTer10
NM_000084.4:c.1183_1184insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG NP_000075.1:p.Leu395ArgfsTer10
NM_001127898.3:c.1393_1394insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG NP_001121370.1:p.Leu465ArgfsTer10
NM_001127899.3:c.1393_1394insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG NP_001121371.1:p.Leu465ArgfsTer10
NM_001282163.1:c.1243_1244insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG NP_001269092.1:p.Leu415ArgfsTer10
XM_011543888.1:c.1393_1394insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG XP_011542190.1:p.Leu465ArgfsTer10
XM_011543889.1:c.1183_1184insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG XP_011542191.1:p.Leu395ArgfsTer10
XM_017029257.1:c.1405_1406insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG XP_016884746.1:p.Leu469ArgfsTer10
XM_017029258.1:c.1405_1406insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG XP_016884747.1:p.Leu469ArgfsTer10
NM_001127898.4:c.1393_1394insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG MANE Select NP_001121370.1:p.Leu465ArgfsTer10
NM_000084.5:c.1183_1184insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG NP_000075.1:p.Leu395ArgfsTer10
NM_001127899.4:c.1393_1394insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG NP_001121371.1:p.Leu465ArgfsTer10
NM_001282163.2:c.1243_1244insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG NP_001269092.1:p.Leu415ArgfsTer10