Canonical Allele Identifier: CA2630990971

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447542-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447545del , CM000678.2:g.1447545del	GRCh38
NC_000016.9:g.1497546del , CM000678.1:g.1497546del	GRCh37
NC_000016.8:g.1437547del	NCBI36
NG_007567.1:g.32542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2099del	ENSP00000514703.1:p.Gly700AlafsTer7
ENST00000699948.1:c.*412del	ENSP00000514704.1:n.*412del
ENST00000382745.9:c.2099del MANE Select	ENSP00000372193.4:p.Gly700AlafsTer7
ENST00000262318.12:c.2027del	ENSP00000262318.8:p.Gly676AlafsTer7
ENST00000382745.8:c.2099del	ENSP00000372193.4:p.Gly700AlafsTer7
ENST00000448525.5:c.2027del	ENSP00000410907.1:p.Gly676AlafsTer7
ENST00000563642.6:n.2168del
ENST00000565092.6:n.1134del
ENST00000567836.2:n.340del
NM_001114331.2:c.2027del	NP_001107803.1:p.Gly676AlafsTer7
NM_001287.5:c.2099del	NP_001278.1:p.Gly700AlafsTer7
XM_011522354.1:c.1925del	XP_011520656.1:p.Gly642AlafsTer7
NM_001287.6:c.2099del MANE Select	NP_001278.1:p.Gly700AlafsTer7
NM_001114331.3:c.2027del	NP_001107803.1:p.Gly676AlafsTer7