Canonical Allele Identifier: CA620698165

Gene: CLCN7

Linked Data

• gnomAD v2: 16-1497117-GC-G
• gnomAD v4: 16-1447116-GC-G
• MyVariant Identifiers: chr16:g.1497118del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447119del , CM000678.2:g.1447119del	GRCh38
NC_000016.9:g.1497120del , CM000678.1:g.1497120del	GRCh37
NC_000016.8:g.1437121del	NCBI36
NG_007567.1:g.32968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-31del	ENSP00000514703.1:n.2251-31del
ENST00000699948.1:c.*564-31del	ENSP00000514704.1:n.*564-31del
ENST00000382745.9:c.2251-31del MANE Select	ENSP00000372193.4:n.2251-31del
ENST00000262318.12:c.2183-34del	ENSP00000262318.8:n.2183-34del
ENST00000382745.8:c.2251-31del	ENSP00000372193.4:n.2251-31del
ENST00000448525.5:c.2179-31del	ENSP00000410907.1:n.2179-31del
ENST00000563642.6:n.2320-31del
ENST00000565092.6:n.1286-31del
ENST00000567836.2:n.492-31del
NM_001114331.2:c.2179-31del	NP_001107803.1:n.2179-31del
NM_001287.5:c.2251-31del	NP_001278.1:n.2251-31del
XM_011522354.1:c.2077-31del	XP_011520656.1:n.2077-31del
NM_001287.6:c.2251-31del MANE Select	NP_001278.1:n.2251-31del
NM_001114331.3:c.2179-31del	NP_001107803.1:n.2179-31del