Canonical Allele Identifier: CA2630989952

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447121-C-CCTGCCTCTGCTGTGTGGGCGGGCACTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447121_1447122insCTGCCTCTGCTGTGTGGGCGGGCACTG , CM000678.2:g.1447121_1447122insCTGCCTCTGCTGTGTGGGCGGGCACTG	GRCh38
NC_000016.9:g.1497122_1497123insCTGCCTCTGCTGTGTGGGCGGGCACTG , CM000678.1:g.1497122_1497123insCTGCCTCTGCTGTGTGGGCGGGCACTG	GRCh37
NC_000016.8:g.1437123_1437124insCTGCCTCTGCTGTGTGGGCGGGCACTG	NCBI36
NG_007567.1:g.32963_32964insCAGTGCCCGCCCACACAGCAGAGGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-36_2251-35insCAGTGCCCGCCCACACAGCAGAGGCAG	ENSP00000514703.1:n.2251-36_2251-35insCAGTGCCCGCCCACACAGCAGAG...
ENST00000699948.1:c.*564-36_*564-35insCAGTGCCCGCCCACACAGCAGAGGCAG	ENSP00000514704.1:n.*564-36_*564-35insCAGTGCCCGCCCACACAGCAGAG...
ENST00000382745.9:c.2251-36_2251-35insCAGTGCCCGCCCACACAGCAGAGGCAG MANE Select	ENSP00000372193.4:n.2251-36_2251-35insCAGTGCCCGCCCACACAGCAGAG...
ENST00000262318.12:c.2183-39_2183-38insCAGTGCCCGCCCACACAGCAGAGGCAG	ENSP00000262318.8:n.2183-39_2183-38insCAGTGCCCGCCCACACAGCAGAG...
ENST00000382745.8:c.2251-36_2251-35insCAGTGCCCGCCCACACAGCAGAGGCAG	ENSP00000372193.4:n.2251-36_2251-35insCAGTGCCCGCCCACACAGCAGAG...
ENST00000448525.5:c.2179-36_2179-35insCAGTGCCCGCCCACACAGCAGAGGCAG	ENSP00000410907.1:n.2179-36_2179-35insCAGTGCCCGCCCACACAGCAGAG...
ENST00000563642.6:n.2320-36_2320-35insCAGTGCCCGCCCACACAGCAGAGGCAG
ENST00000565092.6:n.1286-36_1286-35insCAGTGCCCGCCCACACAGCAGAGGCAG
ENST00000567836.2:n.492-36_492-35insCAGTGCCCGCCCACACAGCAGAGGCAG
NM_001114331.2:c.2179-36_2179-35insCAGTGCCCGCCCACACAGCAGAGGCAG	NP_001107803.1:n.2179-36_2179-35insCAGTGCCCGCCCACACAGCAGAGGCA...
NM_001287.5:c.2251-36_2251-35insCAGTGCCCGCCCACACAGCAGAGGCAG	NP_001278.1:n.2251-36_2251-35insCAGTGCCCGCCCACACAGCAGAGGCAG
XM_011522354.1:c.2077-36_2077-35insCAGTGCCCGCCCACACAGCAGAGGCAG	XP_011520656.1:n.2077-36_2077-35insCAGTGCCCGCCCACACAGCAGAGGCA...
NM_001287.6:c.2251-36_2251-35insCAGTGCCCGCCCACACAGCAGAGGCAG MANE Select	NP_001278.1:n.2251-36_2251-35insCAGTGCCCGCCCACACAGCAGAGGCAG
NM_001114331.3:c.2179-36_2179-35insCAGTGCCCGCCCACACAGCAGAGGCAG	NP_001107803.1:n.2179-36_2179-35insCAGTGCCCGCCCACACAGCAGAGGCA...