Canonical Allele Identifier: CA2201679417

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461140_1461143delinsAGGT , CM000678.2:g.1461140_1461143delinsAGGT	GRCh38
NC_000016.9:g.1511141_1511144delinsAGGT , CM000678.1:g.1511141_1511144delinsAGGT	GRCh37
NC_000016.8:g.1451142_1451145delinsAGGT	NCBI36
NG_007567.1:g.18942_18945delinsACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.352-195_352-192delinsACCT	ENSP00000514703.1:n.352-195_352-192delinsACCT
ENST00000699948.1:c.352-195_352-192delinsACCT	ENSP00000514704.1:n.352-195_352-192delinsACCT
ENST00000699950.1:n.304-195_304-192delinsACCT
ENST00000382745.9:c.352-195_352-192delinsACCT MANE Select	ENSP00000372193.4:n.352-195_352-192delinsACCT
ENST00000262318.12:c.280-195_280-192delinsACCT	ENSP00000262318.8:n.280-195_280-192delinsACCT
ENST00000382745.8:c.352-195_352-192delinsACCT	ENSP00000372193.4:n.352-195_352-192delinsACCT
ENST00000448525.5:c.280-195_280-192delinsACCT	ENSP00000410907.1:n.280-195_280-192delinsACCT
ENST00000561665.5:n.382-195_382-192delinsACCT
ENST00000564568.1:c.247-195_247-192delinsACCT	ENSP00000454845.1:n.247-195_247-192delinsACCT
ENST00000567139.1:n.403-195_403-192delinsACCT
ENST00000569851.6:c.178-195_178-192delinsACCT	ENSP00000461009.1:n.178-195_178-192delinsACCT
NM_001114331.2:c.280-195_280-192delinsACCT	NP_001107803.1:n.280-195_280-192delinsACCT
NM_001287.5:c.352-195_352-192delinsACCT	NP_001278.1:n.352-195_352-192delinsACCT
XM_011522354.1:c.178-195_178-192delinsACCT	XP_011520656.1:n.178-195_178-192delinsACCT
NM_001287.6:c.352-195_352-192delinsACCT MANE Select	NP_001278.1:n.352-195_352-192delinsACCT
NM_001114331.3:c.280-195_280-192delinsACCT	NP_001107803.1:n.280-195_280-192delinsACCT