Canonical Allele Identifier: CA2201646652

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447133_1447137delinsAGGCG , CM000678.2:g.1447133_1447137delinsAGGCG	GRCh38
NC_000016.9:g.1497134_1497138delinsAGGCG , CM000678.1:g.1497134_1497138delinsAGGCG	GRCh37
NC_000016.8:g.1437135_1437139delinsAGGCG	NCBI36
NG_007567.1:g.32948_32952delinsCGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-51_2251-47delinsCGCCT	ENSP00000514703.1:n.2251-51_2251-47delinsCGCCT
ENST00000699948.1:c.*564-51_*564-47delinsCGCCT	ENSP00000514704.1:n.*564-51_*564-47delinsCGCCT
ENST00000382745.9:c.2251-51_2251-47delinsCGCCT MANE Select	ENSP00000372193.4:n.2251-51_2251-47delinsCGCCT
ENST00000262318.12:c.2183-54_2183-50delinsCGCCT	ENSP00000262318.8:n.2183-54_2183-50delinsCGCCT
ENST00000382745.8:c.2251-51_2251-47delinsCGCCT	ENSP00000372193.4:n.2251-51_2251-47delinsCGCCT
ENST00000448525.5:c.2179-51_2179-47delinsCGCCT	ENSP00000410907.1:n.2179-51_2179-47delinsCGCCT
ENST00000563642.6:n.2320-51_2320-47delinsCGCCT
ENST00000565092.6:n.1286-51_1286-47delinsCGCCT
ENST00000567836.2:n.492-51_492-47delinsCGCCT
NM_001114331.2:c.2179-51_2179-47delinsCGCCT	NP_001107803.1:n.2179-51_2179-47delinsCGCCT
NM_001287.5:c.2251-51_2251-47delinsCGCCT	NP_001278.1:n.2251-51_2251-47delinsCGCCT
XM_011522354.1:c.2077-51_2077-47delinsCGCCT	XP_011520656.1:n.2077-51_2077-47delinsCGCCT
NM_001287.6:c.2251-51_2251-47delinsCGCCT MANE Select	NP_001278.1:n.2251-51_2251-47delinsCGCCT
NM_001114331.3:c.2179-51_2179-47delinsCGCCT	NP_001107803.1:n.2179-51_2179-47delinsCGCCT