Canonical Allele Identifier: CA718306959

Gene: CLCN7

Linked Data

• dbSNP Id: rs1281909072
• gnomAD v3: 16-1447273-CAG-C
• gnomAD v4: 16-1447273-CAG-C
• MyVariant Identifiers: chr16:g.1497275_1497276del (hg19) ; chr16:g.1447274_1447275del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447276_1447277del , CM000678.2:g.1447276_1447277del	GRCh38
NC_000016.9:g.1497277_1497278del , CM000678.1:g.1497277_1497278del	GRCh37
NC_000016.8:g.1437278_1437279del	NCBI36
NG_007567.1:g.32810_32811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2250+117_2250+118del	ENSP00000514703.1:n.2250+117_2250+118del
ENST00000699948.1:c.*563+117_*563+118del	ENSP00000514704.1:n.*563+117_*563+118del
ENST00000382745.9:c.2250+117_2250+118del MANE Select	ENSP00000372193.4:n.2250+117_2250+118del
ENST00000262318.12:c.2182+113_2182+114del	ENSP00000262318.8:n.2182+113_2182+114del
ENST00000382745.8:c.2250+117_2250+118del	ENSP00000372193.4:n.2250+117_2250+118del
ENST00000448525.5:c.2178+117_2178+118del	ENSP00000410907.1:n.2178+117_2178+118del
ENST00000563642.6:n.2319+117_2319+118del
ENST00000565092.6:n.1285+117_1285+118del
ENST00000567836.2:n.491+117_491+118del
NM_001114331.2:c.2178+117_2178+118del	NP_001107803.1:n.2178+117_2178+118del
NM_001287.5:c.2250+117_2250+118del	NP_001278.1:n.2250+117_2250+118del
XM_011522354.1:c.2076+117_2076+118del	XP_011520656.1:n.2076+117_2076+118del
NM_001287.6:c.2250+117_2250+118del MANE Select	NP_001278.1:n.2250+117_2250+118del
NM_001114331.3:c.2178+117_2178+118del	NP_001107803.1:n.2178+117_2178+118del