Canonical Allele Identifier: CA2575868337

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449200_1449219del , CM000678.2:g.1449200_1449219del	GRCh38
NC_000016.9:g.1499201_1499220del , CM000678.1:g.1499201_1499220del	GRCh37
NC_000016.8:g.1439202_1439221del	NCBI36
NG_007567.1:g.30867_30886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1669+58_1669+77del	ENSP00000514703.1:n.1669+58_1669+77del
ENST00000699948.1:c.1624-125_1624-106del	ENSP00000514704.1:n.1624-125_1624-106del
ENST00000382745.9:c.1669+58_1669+77del MANE Select	ENSP00000372193.4:n.1669+58_1669+77del
ENST00000262318.12:c.1597+58_1597+77del	ENSP00000262318.8:n.1597+58_1597+77del
ENST00000382745.8:c.1669+58_1669+77del	ENSP00000372193.4:n.1669+58_1669+77del
ENST00000448525.5:c.1597+58_1597+77del	ENSP00000410907.1:n.1597+58_1597+77del
ENST00000563642.6:n.1738+58_1738+77del
ENST00000565092.6:n.580_599del
ENST00000567789.1:n.46_65del
NM_001114331.2:c.1597+58_1597+77del	NP_001107803.1:n.1597+58_1597+77del
NM_001287.5:c.1669+58_1669+77del	NP_001278.1:n.1669+58_1669+77del
XM_011522354.1:c.1495+58_1495+77del	XP_011520656.1:n.1495+58_1495+77del
NM_001287.6:c.1669+58_1669+77del MANE Select	NP_001278.1:n.1669+58_1669+77del
NM_001114331.3:c.1597+58_1597+77del	NP_001107803.1:n.1597+58_1597+77del