Canonical Allele Identifier: CA2843443630

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460969_1460984del , CM000678.2:g.1460969_1460984del	GRCh38
NC_000016.9:g.1510970_1510985del , CM000678.1:g.1510970_1510985del	GRCh37
NC_000016.8:g.1450971_1450986del	NCBI36
NG_007567.1:g.19107_19122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.352-30_352-15del	ENSP00000514703.1:n.352-30_352-15del
ENST00000699948.1:c.352-30_352-15del	ENSP00000514704.1:n.352-30_352-15del
ENST00000699950.1:n.304-30_304-15del
ENST00000382745.9:c.352-30_352-15del MANE Select	ENSP00000372193.4:n.352-30_352-15del
ENST00000262318.12:c.280-30_280-15del	ENSP00000262318.8:n.280-30_280-15del
ENST00000382745.8:c.352-30_352-15del	ENSP00000372193.4:n.352-30_352-15del
ENST00000448525.5:c.280-30_280-15del	ENSP00000410907.1:n.280-30_280-15del
ENST00000561665.5:n.382-30_382-15del
ENST00000564568.1:c.247-30_247-15del	ENSP00000454845.1:n.247-30_247-15del
ENST00000567139.1:n.403-30_403-15del
ENST00000569851.6:c.178-30_178-15del	ENSP00000461009.1:n.178-30_178-15del
NM_001114331.2:c.280-30_280-15del	NP_001107803.1:n.280-30_280-15del
NM_001287.5:c.352-30_352-15del	NP_001278.1:n.352-30_352-15del
XM_011522354.1:c.178-30_178-15del	XP_011520656.1:n.178-30_178-15del
NM_001287.6:c.352-30_352-15del MANE Select	NP_001278.1:n.352-30_352-15del
NM_001114331.3:c.280-30_280-15del	NP_001107803.1:n.280-30_280-15del