Canonical Allele Identifier: CA2201646942

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447586_1447588delinsCTG , CM000678.2:g.1447586_1447588delinsCTG	GRCh38
NC_000016.9:g.1497587_1497589delinsCTG , CM000678.1:g.1497587_1497589delinsCTG	GRCh37
NC_000016.8:g.1437588_1437590delinsCTG	NCBI36
NG_007567.1:g.32497_32499delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2074-20_2074-18delinsCAG	ENSP00000514703.1:n.2074-20_2074-18delinsCAG
ENST00000699948.1:c.*387-20_*387-18delinsCAG	ENSP00000514704.1:n.*387-20_*387-18delinsCAG
ENST00000382745.9:c.2074-20_2074-18delinsCAG MANE Select	ENSP00000372193.4:n.2074-20_2074-18delinsCAG
ENST00000262318.12:c.2002-20_2002-18delinsCAG	ENSP00000262318.8:n.2002-20_2002-18delinsCAG
ENST00000382745.8:c.2074-20_2074-18delinsCAG	ENSP00000372193.4:n.2074-20_2074-18delinsCAG
ENST00000448525.5:c.2002-20_2002-18delinsCAG	ENSP00000410907.1:n.2002-20_2002-18delinsCAG
ENST00000563642.6:n.2143-20_2143-18delinsCAG
ENST00000565092.6:n.1109-20_1109-18delinsCAG
ENST00000567836.2:n.315-20_315-18delinsCAG
NM_001114331.2:c.2002-20_2002-18delinsCAG	NP_001107803.1:n.2002-20_2002-18delinsCAG
NM_001287.5:c.2074-20_2074-18delinsCAG	NP_001278.1:n.2074-20_2074-18delinsCAG
XM_011522354.1:c.1900-20_1900-18delinsCAG	XP_011520656.1:n.1900-20_1900-18delinsCAG
NM_001287.6:c.2074-20_2074-18delinsCAG MANE Select	NP_001278.1:n.2074-20_2074-18delinsCAG
NM_001114331.3:c.2002-20_2002-18delinsCAG	NP_001107803.1:n.2002-20_2002-18delinsCAG