Canonical Allele Identifier: CA2201666888

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449338_1449339delinsTG , CM000678.2:g.1449338_1449339delinsTG	GRCh38
NC_000016.9:g.1499339_1499340delinsTG , CM000678.1:g.1499339_1499340delinsTG	GRCh37
NC_000016.8:g.1439340_1439341delinsTG	NCBI36
NG_007567.1:g.30746_30747delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1618-12_1618-11delinsCA	ENSP00000514703.1:n.1618-12_1618-11delinsCA
ENST00000699948.1:c.1624-246_1624-245delinsCA	ENSP00000514704.1:n.1624-246_1624-245delinsCA
ENST00000382745.9:c.1618-12_1618-11delinsCA MANE Select	ENSP00000372193.4:n.1618-12_1618-11delinsCA
ENST00000262318.12:c.1546-12_1546-11delinsCA	ENSP00000262318.8:n.1546-12_1546-11delinsCA
ENST00000382745.8:c.1618-12_1618-11delinsCA	ENSP00000372193.4:n.1618-12_1618-11delinsCA
ENST00000448525.5:c.1546-12_1546-11delinsCA	ENSP00000410907.1:n.1546-12_1546-11delinsCA
ENST00000563642.6:n.1675_1676delinsCA
ENST00000565092.6:n.459_460delinsCA
NM_001114331.2:c.1546-12_1546-11delinsCA	NP_001107803.1:n.1546-12_1546-11delinsCA
NM_001287.5:c.1618-12_1618-11delinsCA	NP_001278.1:n.1618-12_1618-11delinsCA
XM_011522354.1:c.1444-12_1444-11delinsCA	XP_011520656.1:n.1444-12_1444-11delinsCA
NM_001287.6:c.1618-12_1618-11delinsCA MANE Select	NP_001278.1:n.1618-12_1618-11delinsCA
NM_001114331.3:c.1546-12_1546-11delinsCA	NP_001107803.1:n.1546-12_1546-11delinsCA