Canonical Allele Identifier: CA1139667544

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 975851
• ClinVar RCV Id: RCV001252964
• dbSNP Id: rs1933898062

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086642dup , CM000685.2:g.50086642dup	GRCh38
NC_000023.10:g.49851299dup , CM000685.1:g.49851299dup	GRCh37
NC_000023.9:g.49738039dup	NCBI36
NG_007159.3:g.169027dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1329dup MANE Select	ENSP00000365259.3:p.Asn444GlnfsTer2
ENST00000642383.1:c.579dup	ENSP00000496353.1:p.Asn194GlnfsTer2
ENST00000642885.1:c.1119dup	ENSP00000496632.1:p.Asn374GlnfsTer2
ENST00000643129.1:c.1616dup
ENST00000646398.1:c.*504dup	ENSP00000495122.1:n.*504dup
ENST00000307367.2:c.1119dup	ENSP00000304257.2:p.Asn374GlnfsTer2
ENST00000376088.7:c.1329dup	ENSP00000365256.3:p.Asn444GlnfsTer2
ENST00000376091.7:c.1329dup	ENSP00000365259.3:p.Asn444GlnfsTer2
ENST00000376108.7:c.1119dup	ENSP00000365276.3:p.Asn374GlnfsTer2
NM_000084.4:c.1119dup	NP_000075.1:p.Asn374GlnfsTer2
NM_001127898.3:c.1329dup	NP_001121370.1:p.Asn444GlnfsTer2
NM_001127899.3:c.1329dup	NP_001121371.1:p.Asn444GlnfsTer2
NM_001282163.1:c.1179dup	NP_001269092.1:p.Asn394GlnfsTer2
XM_011543888.1:c.1329dup	XP_011542190.1:p.Asn444GlnfsTer2
XM_011543889.1:c.1119dup	XP_011542191.1:p.Asn374GlnfsTer2
XM_017029257.1:c.1341dup	XP_016884746.1:p.Asn448GlnfsTer2
XM_017029258.1:c.1341dup	XP_016884747.1:p.Asn448GlnfsTer2
NM_001127898.4:c.1329dup MANE Select	NP_001121370.1:p.Asn444GlnfsTer2
NM_000084.5:c.1119dup	NP_000075.1:p.Asn374GlnfsTer2
NM_001127899.4:c.1329dup	NP_001121371.1:p.Asn444GlnfsTer2
NM_001282163.2:c.1179dup	NP_001269092.1:p.Asn394GlnfsTer2