Canonical Allele Identifier: CA2630990246

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447272-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447273del , CM000678.2:g.1447273del	GRCh38
NC_000016.9:g.1497274del , CM000678.1:g.1497274del	GRCh37
NC_000016.8:g.1437275del	NCBI36
NG_007567.1:g.32812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2250+119del	ENSP00000514703.1:n.2250+119del
ENST00000699948.1:c.*563+119del	ENSP00000514704.1:n.*563+119del
ENST00000382745.9:c.2250+119del MANE Select	ENSP00000372193.4:n.2250+119del
ENST00000262318.12:c.2182+115del	ENSP00000262318.8:n.2182+115del
ENST00000382745.8:c.2250+119del	ENSP00000372193.4:n.2250+119del
ENST00000448525.5:c.2178+119del	ENSP00000410907.1:n.2178+119del
ENST00000563642.6:n.2319+119del
ENST00000565092.6:n.1285+119del
ENST00000567836.2:n.491+119del
NM_001114331.2:c.2178+119del	NP_001107803.1:n.2178+119del
NM_001287.5:c.2250+119del	NP_001278.1:n.2250+119del
XM_011522354.1:c.2076+119del	XP_011520656.1:n.2076+119del
NM_001287.6:c.2250+119del MANE Select	NP_001278.1:n.2250+119del
NM_001114331.3:c.2178+119del	NP_001107803.1:n.2178+119del