Canonical Allele Identifier: CA2580617050

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 1685636
• ClinVar RCV Id: RCV002249363
• dbSNP Id: rs2147596542

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086699_50086700del , CM000685.2:g.50086699_50086700del	GRCh38
NC_000023.10:g.49851356_49851357del , CM000685.1:g.49851356_49851357del	GRCh37
NC_000023.9:g.49738096_49738097del	NCBI36
NG_007159.3:g.169084_169085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1386_1387del MANE Select	ENSP00000365259.3:p.Cys462TrpfsTer10
ENST00000642383.1:c.636_637del	ENSP00000496353.1:p.Cys212TrpfsTer10
ENST00000642885.1:c.1176_1177del	ENSP00000496632.1:p.Cys392TrpfsTer10
ENST00000643129.1:c.1673_1674del
ENST00000646398.1:c.*561_*562del	ENSP00000495122.1:n.*561_*562del
ENST00000307367.2:c.1176_1177del	ENSP00000304257.2:p.Cys392TrpfsTer10
ENST00000376088.7:c.1386_1387del	ENSP00000365256.3:p.Cys462TrpfsTer10
ENST00000376091.7:c.1386_1387del	ENSP00000365259.3:p.Cys462TrpfsTer10
ENST00000376108.7:c.1176_1177del	ENSP00000365276.3:p.Cys392TrpfsTer10
NM_000084.4:c.1176_1177del	NP_000075.1:p.Cys392TrpfsTer10
NM_001127898.3:c.1386_1387del	NP_001121370.1:p.Cys462TrpfsTer10
NM_001127899.3:c.1386_1387del	NP_001121371.1:p.Cys462TrpfsTer10
NM_001282163.1:c.1236_1237del	NP_001269092.1:p.Cys412TrpfsTer10
XM_011543888.1:c.1386_1387del	XP_011542190.1:p.Cys462TrpfsTer10
XM_011543889.1:c.1176_1177del	XP_011542191.1:p.Cys392TrpfsTer10
XM_017029257.1:c.1398_1399del	XP_016884746.1:p.Cys466TrpfsTer10
XM_017029258.1:c.1398_1399del	XP_016884747.1:p.Cys466TrpfsTer10
NM_001127898.4:c.1386_1387del MANE Select	NP_001121370.1:p.Cys462TrpfsTer10
NM_000084.5:c.1176_1177del	NP_000075.1:p.Cys392TrpfsTer10
NM_001127899.4:c.1386_1387del	NP_001121371.1:p.Cys462TrpfsTer10
NM_001282163.2:c.1236_1237del	NP_001269092.1:p.Cys412TrpfsTer10