Canonical Allele Identifier: CA2630990702

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447432-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447434del , CM000678.2:g.1447434del	GRCh38
NC_000016.9:g.1497435del , CM000678.1:g.1497435del	GRCh37
NC_000016.8:g.1437436del	NCBI36
NG_007567.1:g.32652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2209del	ENSP00000514703.1:p.Leu737SerfsTer5
ENST00000699948.1:c.*522del	ENSP00000514704.1:n.*522del
ENST00000382745.9:c.2209del MANE Select	ENSP00000372193.4:p.Leu737SerfsTer5
ENST00000262318.12:c.2137del	ENSP00000262318.8:p.Leu713SerfsTer5
ENST00000382745.8:c.2209del	ENSP00000372193.4:p.Leu737SerfsTer5
ENST00000448525.5:c.2137del	ENSP00000410907.1:p.Leu713SerfsTer5
ENST00000563642.6:n.2278del
ENST00000565092.6:n.1244del
ENST00000567836.2:n.450del
NM_001114331.2:c.2137del	NP_001107803.1:p.Leu713SerfsTer5
NM_001287.5:c.2209del	NP_001278.1:p.Leu737SerfsTer5
XM_011522354.1:c.2035del	XP_011520656.1:p.Leu679SerfsTer5
NM_001287.6:c.2209del MANE Select	NP_001278.1:p.Leu737SerfsTer5
NM_001114331.3:c.2137del	NP_001107803.1:p.Leu713SerfsTer5