Canonical Allele Identifier: CA2630990140

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447207-C-CTGCCTGAGCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447207_1447208insTGCCTGAGCCCCA , CM000678.2:g.1447207_1447208insTGCCTGAGCCCCA	GRCh38
NC_000016.9:g.1497208_1497209insTGCCTGAGCCCCA , CM000678.1:g.1497208_1497209insTGCCTGAGCCCCA	GRCh37
NC_000016.8:g.1437209_1437210insTGCCTGAGCCCCA	NCBI36
NG_007567.1:g.32877_32878insTGGGGCTCAGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-122_2251-121insTGGGGCTCAGGCA	ENSP00000514703.1:n.2251-122_2251-121insTGGGGCTCAGGCA
ENST00000699948.1:c.*564-122_*564-121insTGGGGCTCAGGCA	ENSP00000514704.1:n.*564-122_*564-121insTGGGGCTCAGGCA
ENST00000382745.9:c.2251-122_2251-121insTGGGGCTCAGGCA MANE Select	ENSP00000372193.4:n.2251-122_2251-121insTGGGGCTCAGGCA
ENST00000262318.12:c.2183-125_2183-124insTGGGGCTCAGGCA	ENSP00000262318.8:n.2183-125_2183-124insTGGGGCTCAGGCA
ENST00000382745.8:c.2251-122_2251-121insTGGGGCTCAGGCA	ENSP00000372193.4:n.2251-122_2251-121insTGGGGCTCAGGCA
ENST00000448525.5:c.2179-122_2179-121insTGGGGCTCAGGCA	ENSP00000410907.1:n.2179-122_2179-121insTGGGGCTCAGGCA
ENST00000563642.6:n.2320-122_2320-121insTGGGGCTCAGGCA
ENST00000565092.6:n.1286-122_1286-121insTGGGGCTCAGGCA
ENST00000567836.2:n.492-122_492-121insTGGGGCTCAGGCA
NM_001114331.2:c.2179-122_2179-121insTGGGGCTCAGGCA	NP_001107803.1:n.2179-122_2179-121insTGGGGCTCAGGCA
NM_001287.5:c.2251-122_2251-121insTGGGGCTCAGGCA	NP_001278.1:n.2251-122_2251-121insTGGGGCTCAGGCA
XM_011522354.1:c.2077-122_2077-121insTGGGGCTCAGGCA	XP_011520656.1:n.2077-122_2077-121insTGGGGCTCAGGCA
NM_001287.6:c.2251-122_2251-121insTGGGGCTCAGGCA MANE Select	NP_001278.1:n.2251-122_2251-121insTGGGGCTCAGGCA
NM_001114331.3:c.2179-122_2179-121insTGGGGCTCAGGCA	NP_001107803.1:n.2179-122_2179-121insTGGGGCTCAGGCA