Canonical Allele Identifier: CA2843443628

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460932del , CM000678.2:g.1460932del	GRCh38
NC_000016.9:g.1510933del , CM000678.1:g.1510933del	GRCh37
NC_000016.8:g.1450934del	NCBI36
NG_007567.1:g.19153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.368del	ENSP00000514703.1:p.Glu123GlyfsTer?
ENST00000699948.1:c.368del	ENSP00000514704.1:p.Glu123GlyfsTer?
ENST00000699950.1:n.320del
ENST00000382745.9:c.368del MANE Select	ENSP00000372193.4:p.Glu123GlyfsTer?
ENST00000262318.12:c.296del	ENSP00000262318.8:p.Glu99GlyfsTer?
ENST00000382745.8:c.368del	ENSP00000372193.4:p.Glu123GlyfsTer?
ENST00000448525.5:c.296del	ENSP00000410907.1:p.Glu99GlyfsTer?
ENST00000561665.5:n.398del
ENST00000564568.1:c.263del	ENSP00000454845.1:p.Glu88GlyfsTer?
ENST00000567139.1:n.419del
ENST00000569851.6:c.194del	ENSP00000461009.1:p.Glu65GlyfsTer?
NM_001114331.2:c.296del	NP_001107803.1:p.Glu99GlyfsTer?
NM_001287.5:c.368del	NP_001278.1:p.Glu123GlyfsTer?
XM_011522354.1:c.194del	XP_011520656.1:p.Glu65GlyfsTer?
NM_001287.6:c.368del MANE Select	NP_001278.1:p.Glu123GlyfsTer?
NM_001114331.3:c.296del	NP_001107803.1:p.Glu99GlyfsTer?