Canonical Allele Identifier: CA2630991097

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447593-A-AGGCACCCAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447594_1447604dup , CM000678.2:g.1447594_1447604dup	GRCh38
NC_000016.9:g.1497595_1497605dup , CM000678.1:g.1497595_1497605dup	GRCh37
NC_000016.8:g.1437596_1437606dup	NCBI36
NG_007567.1:g.32481_32491dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2074-36_2074-26dup	ENSP00000514703.1:n.2074-36_2074-26dup
ENST00000699948.1:c.*387-36_*387-26dup	ENSP00000514704.1:n.*387-36_*387-26dup
ENST00000382745.9:c.2074-36_2074-26dup MANE Select	ENSP00000372193.4:n.2074-36_2074-26dup
ENST00000262318.12:c.2002-36_2002-26dup	ENSP00000262318.8:n.2002-36_2002-26dup
ENST00000382745.8:c.2074-36_2074-26dup	ENSP00000372193.4:n.2074-36_2074-26dup
ENST00000448525.5:c.2002-36_2002-26dup	ENSP00000410907.1:n.2002-36_2002-26dup
ENST00000563642.6:n.2143-36_2143-26dup
ENST00000565092.6:n.1109-36_1109-26dup
ENST00000567836.2:n.315-36_315-26dup
NM_001114331.2:c.2002-36_2002-26dup	NP_001107803.1:n.2002-36_2002-26dup
NM_001287.5:c.2074-36_2074-26dup	NP_001278.1:n.2074-36_2074-26dup
XM_011522354.1:c.1900-36_1900-26dup	XP_011520656.1:n.1900-36_1900-26dup
NM_001287.6:c.2074-36_2074-26dup MANE Select	NP_001278.1:n.2074-36_2074-26dup
NM_001114331.3:c.2002-36_2002-26dup	NP_001107803.1:n.2002-36_2002-26dup