Canonical Allele Identifier: CA2630989951

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447121-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447121_1447122insTG , CM000678.2:g.1447121_1447122insTG	GRCh38
NC_000016.9:g.1497122_1497123insTG , CM000678.1:g.1497122_1497123insTG	GRCh37
NC_000016.8:g.1437123_1437124insTG	NCBI36
NG_007567.1:g.32963_32964insCA

Transcript Alleles

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