Canonical Allele Identifier: CA2201646900

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 1358567
• ClinVar RCV Id: RCV001878664
• dbSNP Id: rs1834559620
• gnomAD v4: 16-1447516-T-TTCAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447521_1447526dup , CM000678.2:g.1447521_1447526dup	GRCh38
NC_000016.9:g.1497522_1497527dup , CM000678.1:g.1497522_1497527dup	GRCh37
NC_000016.8:g.1437523_1437528dup	NCBI36
NG_007567.1:g.32563_32568dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2120_2125dup	ENSP00000514703.1:p.Leu708_Lys709insArgLeu
ENST00000699948.1:c.*433_*438dup	ENSP00000514704.1:n.*433_*438dup
ENST00000382745.9:c.2120_2125dup MANE Select	ENSP00000372193.4:p.Leu708_Lys709insArgLeu
ENST00000262318.12:c.2048_2053dup	ENSP00000262318.8:p.Leu684_Lys685insArgLeu
ENST00000382745.8:c.2120_2125dup	ENSP00000372193.4:p.Leu708_Lys709insArgLeu
ENST00000448525.5:c.2048_2053dup	ENSP00000410907.1:p.Leu684_Lys685insArgLeu
ENST00000563642.6:n.2189_2194dup
ENST00000565092.6:n.1155_1160dup
ENST00000567836.2:n.361_366dup
NM_001114331.2:c.2048_2053dup	NP_001107803.1:p.Leu684_Lys685insArgLeu
NM_001287.5:c.2120_2125dup	NP_001278.1:p.Leu708_Lys709insArgLeu
XM_011522354.1:c.1946_1951dup	XP_011520656.1:p.Leu650_Lys651insArgLeu
NM_001287.6:c.2120_2125dup MANE Select	NP_001278.1:p.Leu708_Lys709insArgLeu
NM_001114331.3:c.2048_2053dup	NP_001107803.1:p.Leu684_Lys685insArgLeu