Canonical Allele Identifier: CA620698161

Gene: CLCN7

Linked Data

• dbSNP Id: rs1280390113
• gnomAD v2: 16-1497097-G-GGGCACAGCTGTCAGTGCCCGCCCACACAGCAGA
• MyVariant Identifiers: chr16:g.1497097_1497098insGGCACAGCTGTCAGTGCCCGCCCACACAGCAGA (hg19) ; chr16:g.1447096_1447097insGGCACAGCTGTCAGTGCCCGCCCACACAGCAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447101_1447133dup , CM000678.2:g.1447101_1447133dup	GRCh38
NC_000016.9:g.1497102_1497134dup , CM000678.1:g.1497102_1497134dup	GRCh37
NC_000016.8:g.1437103_1437135dup	NCBI36
NG_007567.1:g.32956_32988dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-43_2251-11dup	ENSP00000514703.1:n.2251-43_2251-11dup
ENST00000699948.1:c.*564-43_*564-11dup	ENSP00000514704.1:n.*564-43_*564-11dup
ENST00000382745.9:c.2251-43_2251-11dup MANE Select	ENSP00000372193.4:n.2251-43_2251-11dup
ENST00000262318.12:c.2183-46_2183-14dup	ENSP00000262318.8:n.2183-46_2183-14dup
ENST00000382745.8:c.2251-43_2251-11dup	ENSP00000372193.4:n.2251-43_2251-11dup
ENST00000448525.5:c.2179-43_2179-11dup	ENSP00000410907.1:n.2179-43_2179-11dup
ENST00000563642.6:n.2320-43_2320-11dup
ENST00000565092.6:n.1286-43_1286-11dup
ENST00000567836.2:n.492-43_492-11dup
NM_001114331.2:c.2179-43_2179-11dup	NP_001107803.1:n.2179-43_2179-11dup
NM_001287.5:c.2251-43_2251-11dup	NP_001278.1:n.2251-43_2251-11dup
XM_011522354.1:c.2077-43_2077-11dup	XP_011520656.1:n.2077-43_2077-11dup
NM_001287.6:c.2251-43_2251-11dup MANE Select	NP_001278.1:n.2251-43_2251-11dup
NM_001114331.3:c.2179-43_2179-11dup	NP_001107803.1:n.2179-43_2179-11dup