Canonical Allele Identifier: CA645611539

Gene: CLCN5

Linked Data

• COSMIC: COSM1745469 ; COSM1745470

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086346dup , CM000685.2:g.50086346dup	GRCh38
NC_000023.10:g.49851003dup , CM000685.1:g.49851003dup	GRCh37
NC_000023.9:g.49737743dup	NCBI36
NG_007159.3:g.168731dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1033dup MANE Select	ENSP00000365259.3:p.Leu345ProfsTer?
ENST00000642383.1:c.283dup	ENSP00000496353.1:p.Leu95ProfsTer?
ENST00000642885.1:c.823dup	ENSP00000496632.1:p.Leu275ProfsTer?
ENST00000643129.1:c.1320dup
ENST00000646398.1:c.*208dup	ENSP00000495122.1:n.*208dup
ENST00000307367.2:c.823dup	ENSP00000304257.2:p.Leu275ProfsTer?
ENST00000376088.7:c.1033dup	ENSP00000365256.3:p.Leu345ProfsTer?
ENST00000376091.7:c.1033dup	ENSP00000365259.3:p.Leu345ProfsTer?
ENST00000376108.7:c.823dup	ENSP00000365276.3:p.Leu275ProfsTer?
NM_000084.4:c.823dup	NP_000075.1:p.Leu275ProfsTer?
NM_001127898.3:c.1033dup	NP_001121370.1:p.Leu345ProfsTer?
NM_001127899.3:c.1033dup	NP_001121371.1:p.Leu345ProfsTer?
NM_001282163.1:c.883dup	NP_001269092.1:p.Leu295ProfsTer?
XM_011543888.1:c.1033dup	XP_011542190.1:p.Leu345ProfsTer?
XM_011543889.1:c.823dup	XP_011542191.1:p.Leu275ProfsTer?
XM_017029257.1:c.1045dup	XP_016884746.1:p.Leu349ProfsTer?
XM_017029258.1:c.1045dup	XP_016884747.1:p.Leu349ProfsTer?
NM_001127898.4:c.1033dup MANE Select	NP_001121370.1:p.Leu345ProfsTer?
NM_000084.5:c.823dup	NP_000075.1:p.Leu275ProfsTer?
NM_001127899.4:c.1033dup	NP_001121371.1:p.Leu345ProfsTer?
NM_001282163.2:c.883dup	NP_001269092.1:p.Leu295ProfsTer?