Canonical Allele Identifier: CA2201666919

Gene: CLCN7

Linked Data

• dbSNP Id: rs2038706585

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449381_1449388del , CM000678.2:g.1449381_1449388del	GRCh38
NC_000016.9:g.1499382_1499389del , CM000678.1:g.1499382_1499389del	GRCh37
NC_000016.8:g.1439383_1439390del	NCBI36
NG_007567.1:g.30699_30706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1618-59_1618-52del	ENSP00000514703.1:n.1618-59_1618-52del
ENST00000699948.1:c.1624-293_1624-286del	ENSP00000514704.1:n.1624-293_1624-286del
ENST00000382745.9:c.1618-59_1618-52del MANE Select	ENSP00000372193.4:n.1618-59_1618-52del
ENST00000262318.12:c.1546-59_1546-52del	ENSP00000262318.8:n.1546-59_1546-52del
ENST00000382745.8:c.1618-59_1618-52del	ENSP00000372193.4:n.1618-59_1618-52del
ENST00000448525.5:c.1546-59_1546-52del	ENSP00000410907.1:n.1546-59_1546-52del
ENST00000563642.6:n.1628_1635del
ENST00000565092.6:n.412_419del
NM_001114331.2:c.1546-59_1546-52del	NP_001107803.1:n.1546-59_1546-52del
NM_001287.5:c.1618-59_1618-52del	NP_001278.1:n.1618-59_1618-52del
XM_011522354.1:c.1444-59_1444-52del	XP_011520656.1:n.1444-59_1444-52del
NM_001287.6:c.1618-59_1618-52del MANE Select	NP_001278.1:n.1618-59_1618-52del
NM_001114331.3:c.1546-59_1546-52del	NP_001107803.1:n.1546-59_1546-52del