Canonical Allele Identifier: CA1139667540

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 932948
• ClinVar RCV Id: RCV001200921
• dbSNP Id: rs1933891368

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086489del , CM000685.2:g.50086489del	GRCh38
NC_000023.10:g.49851146del , CM000685.1:g.49851146del	GRCh37
NC_000023.9:g.49737886del	NCBI36
NG_007159.3:g.168874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1176del MANE Select	ENSP00000365259.3:p.Phe392LeufsTer?
ENST00000642383.1:c.426del	ENSP00000496353.1:p.Phe142LeufsTer?
ENST00000642885.1:c.966del	ENSP00000496632.1:p.Phe322LeufsTer?
ENST00000643129.1:c.1463del
ENST00000646398.1:c.*351del	ENSP00000495122.1:n.*351del
ENST00000307367.2:c.966del	ENSP00000304257.2:p.Phe322LeufsTer?
ENST00000376088.7:c.1176del	ENSP00000365256.3:p.Phe392LeufsTer?
ENST00000376091.7:c.1176del	ENSP00000365259.3:p.Phe392LeufsTer?
ENST00000376108.7:c.966del	ENSP00000365276.3:p.Phe322LeufsTer?
NM_000084.4:c.966del	NP_000075.1:p.Phe322LeufsTer?
NM_001127898.3:c.1176del	NP_001121370.1:p.Phe392LeufsTer?
NM_001127899.3:c.1176del	NP_001121371.1:p.Phe392LeufsTer?
NM_001282163.1:c.1026del	NP_001269092.1:p.Phe342LeufsTer?
XM_011543888.1:c.1176del	XP_011542190.1:p.Phe392LeufsTer?
XM_011543889.1:c.966del	XP_011542191.1:p.Phe322LeufsTer?
XM_017029257.1:c.1188del	XP_016884746.1:p.Phe396LeufsTer?
XM_017029258.1:c.1188del	XP_016884747.1:p.Phe396LeufsTer?
NM_001127898.4:c.1176del MANE Select	NP_001121370.1:p.Phe392LeufsTer?
NM_000084.5:c.966del	NP_000075.1:p.Phe322LeufsTer?
NM_001127899.4:c.1176del	NP_001121371.1:p.Phe392LeufsTer?
NM_001282163.2:c.1026del	NP_001269092.1:p.Phe342LeufsTer?