Canonical Allele Identifier: CA2201646693

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447197_1447198delinsGC , CM000678.2:g.1447197_1447198delinsGC	GRCh38
NC_000016.9:g.1497198_1497199delinsGC , CM000678.1:g.1497198_1497199delinsGC	GRCh37
NC_000016.8:g.1437199_1437200delinsGC	NCBI36
NG_007567.1:g.32887_32888delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-112_2251-111delinsGC	ENSP00000514703.1:n.2251-112_2251-111delinsGC
ENST00000699948.1:c.*564-112_*564-111delinsGC	ENSP00000514704.1:n.*564-112_*564-111delinsGC
ENST00000382745.9:c.2251-112_2251-111delinsGC MANE Select	ENSP00000372193.4:n.2251-112_2251-111delinsGC
ENST00000262318.12:c.2183-115_2183-114delinsGC	ENSP00000262318.8:n.2183-115_2183-114delinsGC
ENST00000382745.8:c.2251-112_2251-111delinsGC	ENSP00000372193.4:n.2251-112_2251-111delinsGC
ENST00000448525.5:c.2179-112_2179-111delinsGC	ENSP00000410907.1:n.2179-112_2179-111delinsGC
ENST00000563642.6:n.2320-112_2320-111delinsGC
ENST00000565092.6:n.1286-112_1286-111delinsGC
ENST00000567836.2:n.492-112_492-111delinsGC
NM_001114331.2:c.2179-112_2179-111delinsGC	NP_001107803.1:n.2179-112_2179-111delinsGC
NM_001287.5:c.2251-112_2251-111delinsGC	NP_001278.1:n.2251-112_2251-111delinsGC
XM_011522354.1:c.2077-112_2077-111delinsGC	XP_011520656.1:n.2077-112_2077-111delinsGC
NM_001287.6:c.2251-112_2251-111delinsGC MANE Select	NP_001278.1:n.2251-112_2251-111delinsGC
NM_001114331.3:c.2179-112_2179-111delinsGC	NP_001107803.1:n.2179-112_2179-111delinsGC