Canonical Allele Identifier: CA2630996605

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1461300-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461300_1461301insCT , CM000678.2:g.1461300_1461301insCT	GRCh38
NC_000016.9:g.1511301_1511302insCT , CM000678.1:g.1511301_1511302insCT	GRCh37
NC_000016.8:g.1451302_1451303insCT	NCBI36
NG_007567.1:g.18784_18785insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.351+104_351+105insAG	ENSP00000514703.1:n.351+104_351+105insAG
ENST00000699948.1:c.351+104_351+105insAG	ENSP00000514704.1:n.351+104_351+105insAG
ENST00000699950.1:n.303+104_303+105insAG
ENST00000382745.9:c.351+104_351+105insAG MANE Select	ENSP00000372193.4:n.351+104_351+105insAG
ENST00000262318.12:c.279+104_279+105insAG	ENSP00000262318.8:n.279+104_279+105insAG
ENST00000382745.8:c.351+104_351+105insAG	ENSP00000372193.4:n.351+104_351+105insAG
ENST00000448525.5:c.279+104_279+105insAG	ENSP00000410907.1:n.279+104_279+105insAG
ENST00000561665.5:n.381+104_381+105insAG
ENST00000564568.1:c.246+104_246+105insAG	ENSP00000454845.1:n.246+104_246+105insAG
ENST00000567139.1:n.402+104_402+105insAG
ENST00000569851.6:c.177+104_177+105insAG	ENSP00000461009.1:n.177+104_177+105insAG
NM_001114331.2:c.279+104_279+105insAG	NP_001107803.1:n.279+104_279+105insAG
NM_001287.5:c.351+104_351+105insAG	NP_001278.1:n.351+104_351+105insAG
XM_011522354.1:c.177+104_177+105insAG	XP_011520656.1:n.177+104_177+105insAG
NM_001287.6:c.351+104_351+105insAG MANE Select	NP_001278.1:n.351+104_351+105insAG
NM_001114331.3:c.279+104_279+105insAG	NP_001107803.1:n.279+104_279+105insAG