Canonical Allele Identifier: CA2201679529

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461244_1461260delinsCCCACTGTCTCTAGAAA , CM000678.2:g.1461244_1461260delinsCCCACTGTCTCTAGAAA	GRCh38
NC_000016.9:g.1511245_1511261delinsCCCACTGTCTCTAGAAA , CM000678.1:g.1511245_1511261delinsCCCACTGTCTCTAGAAA	GRCh37
NC_000016.8:g.1451246_1451262delinsCCCACTGTCTCTAGAAA	NCBI36
NG_007567.1:g.18825_18841delinsTTTCTAGAGACAGTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.351+145_351+161delinsTTTCTAGAGACAGTGGG	ENSP00000514703.1:n.351+145_351+161delinsTTTCTAGAGACAGTGGG
ENST00000699948.1:c.351+145_351+161delinsTTTCTAGAGACAGTGGG	ENSP00000514704.1:n.351+145_351+161delinsTTTCTAGAGACAGTGGG
ENST00000699950.1:n.303+145_303+161delinsTTTCTAGAGACAGTGGG
ENST00000382745.9:c.351+145_351+161delinsTTTCTAGAGACAGTGGG MANE Select	ENSP00000372193.4:n.351+145_351+161delinsTTTCTAGAGACAGTGGG
ENST00000262318.12:c.279+145_279+161delinsTTTCTAGAGACAGTGGG	ENSP00000262318.8:n.279+145_279+161delinsTTTCTAGAGACAGTGGG
ENST00000382745.8:c.351+145_351+161delinsTTTCTAGAGACAGTGGG	ENSP00000372193.4:n.351+145_351+161delinsTTTCTAGAGACAGTGGG
ENST00000448525.5:c.279+145_279+161delinsTTTCTAGAGACAGTGGG	ENSP00000410907.1:n.279+145_279+161delinsTTTCTAGAGACAGTGGG
ENST00000561665.5:n.381+145_381+161delinsTTTCTAGAGACAGTGGG
ENST00000564568.1:c.246+145_246+161delinsTTTCTAGAGACAGTGGG	ENSP00000454845.1:n.246+145_246+161delinsTTTCTAGAGACAGTGGG
ENST00000567139.1:n.402+145_402+161delinsTTTCTAGAGACAGTGGG
ENST00000569851.6:c.177+145_177+161delinsTTTCTAGAGACAGTGGG	ENSP00000461009.1:n.177+145_177+161delinsTTTCTAGAGACAGTGGG
NM_001114331.2:c.279+145_279+161delinsTTTCTAGAGACAGTGGG	NP_001107803.1:n.279+145_279+161delinsTTTCTAGAGACAGTGGG
NM_001287.5:c.351+145_351+161delinsTTTCTAGAGACAGTGGG	NP_001278.1:n.351+145_351+161delinsTTTCTAGAGACAGTGGG
XM_011522354.1:c.177+145_177+161delinsTTTCTAGAGACAGTGGG	XP_011520656.1:n.177+145_177+161delinsTTTCTAGAGACAGTGGG
NM_001287.6:c.351+145_351+161delinsTTTCTAGAGACAGTGGG MANE Select	NP_001278.1:n.351+145_351+161delinsTTTCTAGAGACAGTGGG
NM_001114331.3:c.279+145_279+161delinsTTTCTAGAGACAGTGGG	NP_001107803.1:n.279+145_279+161delinsTTTCTAGAGACAGTGGG