Canonical Allele Identifier: CA2630991006

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447558-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447560del , CM000678.2:g.1447560del	GRCh38
NC_000016.9:g.1497561del , CM000678.1:g.1497561del	GRCh37
NC_000016.8:g.1437562del	NCBI36
NG_007567.1:g.32526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2083del	ENSP00000514703.1:p.Glu695SerfsTer12
ENST00000699948.1:c.*396del	ENSP00000514704.1:n.*396del
ENST00000382745.9:c.2083del MANE Select	ENSP00000372193.4:p.Glu695SerfsTer12
ENST00000262318.12:c.2011del	ENSP00000262318.8:p.Glu671SerfsTer12
ENST00000382745.8:c.2083del	ENSP00000372193.4:p.Glu695SerfsTer12
ENST00000448525.5:c.2011del	ENSP00000410907.1:p.Glu671SerfsTer12
ENST00000563642.6:n.2152del
ENST00000565092.6:n.1118del
ENST00000567836.2:n.324del
NM_001114331.2:c.2011del	NP_001107803.1:p.Glu671SerfsTer12
NM_001287.5:c.2083del	NP_001278.1:p.Glu695SerfsTer12
XM_011522354.1:c.1909del	XP_011520656.1:p.Glu637SerfsTer12
NM_001287.6:c.2083del MANE Select	NP_001278.1:p.Glu695SerfsTer12
NM_001114331.3:c.2011del	NP_001107803.1:p.Glu671SerfsTer12