Canonical Allele Identifier: CA329782441

Gene: CLCN5

Linked Data

• dbSNP Id: rs34804348

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086342dup , CM000685.2:g.50086342dup	GRCh38
NC_000023.10:g.49850999dup , CM000685.1:g.49850999dup	GRCh37
NC_000023.9:g.49737739dup	NCBI36
NG_007159.3:g.168727dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1029dup MANE Select	ENSP00000365259.3:p.Pro344SerfsTer?
ENST00000642383.1:c.279dup	ENSP00000496353.1:p.Pro94SerfsTer?
ENST00000642885.1:c.819dup	ENSP00000496632.1:p.Pro274SerfsTer?
ENST00000643129.1:c.1316dup
ENST00000646398.1:c.*204dup	ENSP00000495122.1:n.*204dup
ENST00000307367.2:c.819dup	ENSP00000304257.2:p.Pro274SerfsTer?
ENST00000376088.7:c.1029dup	ENSP00000365256.3:p.Pro344SerfsTer?
ENST00000376091.7:c.1029dup	ENSP00000365259.3:p.Pro344SerfsTer?
ENST00000376108.7:c.819dup	ENSP00000365276.3:p.Pro274SerfsTer?
NM_000084.4:c.819dup	NP_000075.1:p.Pro274SerfsTer?
NM_001127898.3:c.1029dup	NP_001121370.1:p.Pro344SerfsTer?
NM_001127899.3:c.1029dup	NP_001121371.1:p.Pro344SerfsTer?
NM_001282163.1:c.879dup	NP_001269092.1:p.Pro294SerfsTer?
XM_011543888.1:c.1029dup	XP_011542190.1:p.Pro344SerfsTer?
XM_011543889.1:c.819dup	XP_011542191.1:p.Pro274SerfsTer?
XM_017029257.1:c.1041dup	XP_016884746.1:p.Pro348SerfsTer?
XM_017029258.1:c.1041dup	XP_016884747.1:p.Pro348SerfsTer?
NM_001127898.4:c.1029dup MANE Select	NP_001121370.1:p.Pro344SerfsTer?
NM_000084.5:c.819dup	NP_000075.1:p.Pro274SerfsTer?
NM_001127899.4:c.1029dup	NP_001121371.1:p.Pro344SerfsTer?
NM_001282163.2:c.879dup	NP_001269092.1:p.Pro294SerfsTer?