Canonical Allele Identifier: CA2428768938

Gene: CLCN5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086686_50086687delinsTG , CM000685.2:g.50086686_50086687delinsTG	GRCh38
NC_000023.10:g.49851343_49851344delinsTG , CM000685.1:g.49851343_49851344delinsTG	GRCh37
NC_000023.9:g.49738083_49738084delinsTG	NCBI36
NG_007159.3:g.169071_169072delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1373_1374delinsTG MANE Select	ENSP00000365259.3:p.Leu458=
ENST00000642383.1:c.623_624delinsTG	ENSP00000496353.1:p.Leu208=
ENST00000642885.1:c.1163_1164delinsTG	ENSP00000496632.1:p.Leu388=
ENST00000643129.1:c.1660_1661delinsTG
ENST00000646398.1:c.*548_*549delinsTG	ENSP00000495122.1:n.*548_*549delinsTG
ENST00000307367.2:c.1163_1164delinsTG	ENSP00000304257.2:p.Leu388=
ENST00000376088.7:c.1373_1374delinsTG	ENSP00000365256.3:p.Leu458=
ENST00000376091.7:c.1373_1374delinsTG	ENSP00000365259.3:p.Leu458=
ENST00000376108.7:c.1163_1164delinsTG	ENSP00000365276.3:p.Leu388=
NM_000084.4:c.1163_1164delinsTG	NP_000075.1:p.Leu388=
NM_001127898.3:c.1373_1374delinsTG	NP_001121370.1:p.Leu458=
NM_001127899.3:c.1373_1374delinsTG	NP_001121371.1:p.Leu458=
NM_001282163.1:c.1223_1224delinsTG	NP_001269092.1:p.Leu408=
XM_011543888.1:c.1373_1374delinsTG	XP_011542190.1:p.Leu458=
XM_011543889.1:c.1163_1164delinsTG	XP_011542191.1:p.Leu388=
XM_017029257.1:c.1385_1386delinsTG	XP_016884746.1:p.Leu462=
XM_017029258.1:c.1385_1386delinsTG	XP_016884747.1:p.Leu462=
NM_001127898.4:c.1373_1374delinsTG MANE Select	NP_001121370.1:p.Leu458=
NM_000084.5:c.1163_1164delinsTG	NP_000075.1:p.Leu388=
NM_001127899.4:c.1373_1374delinsTG	NP_001121371.1:p.Leu458=
NM_001282163.2:c.1223_1224delinsTG	NP_001269092.1:p.Leu408=