Canonical Allele Identifier: CA2630989714

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447042-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447045del , CM000678.2:g.1447045del	GRCh38
NC_000016.9:g.1497046del , CM000678.1:g.1497046del	GRCh37
NC_000016.8:g.1437047del	NCBI36
NG_007567.1:g.33042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2294del	ENSP00000514703.1:p.Gly765AlafsTer?
ENST00000699948.1:c.*607del	ENSP00000514704.1:n.*607del
ENST00000382745.9:c.2294del MANE Select	ENSP00000372193.4:p.Gly765AlafsTer18
ENST00000262318.12:c.2223del	ENSP00000262318.8:p.Pro742LeufsTer?
ENST00000382745.8:c.2294del	ENSP00000372193.4:p.Gly765AlafsTer18
ENST00000448525.5:c.2222del	ENSP00000410907.1:p.Gly741AlafsTer18
ENST00000563642.6:n.2363del
ENST00000565092.6:n.1329del
ENST00000567836.2:n.535del
NM_001114331.2:c.2222del	NP_001107803.1:p.Gly741AlafsTer18
NM_001287.5:c.2294del	NP_001278.1:p.Gly765AlafsTer18
XM_011522354.1:c.2120del	XP_011520656.1:p.Gly707AlafsTer18
NM_001287.6:c.2294del MANE Select	NP_001278.1:p.Gly765AlafsTer18
NM_001114331.3:c.2222del	NP_001107803.1:p.Gly741AlafsTer18