Canonical Allele Identifier: CA2695233686

Gene: CLCN5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086687_50086688insAG , CM000685.2:g.50086687_50086688insAG	GRCh38
NC_000023.10:g.49851344_49851345insAG , CM000685.1:g.49851344_49851345insAG	GRCh37
NC_000023.9:g.49738084_49738085insAG	NCBI36
NG_007159.3:g.169072_169073insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1374_1375insAG MANE Select	ENSP00000365259.3:p.Phe459SerfsTer?
ENST00000642383.1:c.624_625insAG	ENSP00000496353.1:p.Phe209SerfsTer?
ENST00000642885.1:c.1164_1165insAG	ENSP00000496632.1:p.Phe389SerfsTer?
ENST00000643129.1:c.1661_1662insAG
ENST00000646398.1:c.*549_*550insAG	ENSP00000495122.1:n.*549_*550insAG
ENST00000307367.2:c.1164_1165insAG	ENSP00000304257.2:p.Phe389SerfsTer?
ENST00000376088.7:c.1374_1375insAG	ENSP00000365256.3:p.Phe459SerfsTer?
ENST00000376091.7:c.1374_1375insAG	ENSP00000365259.3:p.Phe459SerfsTer?
ENST00000376108.7:c.1164_1165insAG	ENSP00000365276.3:p.Phe389SerfsTer?
NM_000084.4:c.1164_1165insAG	NP_000075.1:p.Phe389SerfsTer?
NM_001127898.3:c.1374_1375insAG	NP_001121370.1:p.Phe459SerfsTer?
NM_001127899.3:c.1374_1375insAG	NP_001121371.1:p.Phe459SerfsTer?
NM_001282163.1:c.1224_1225insAG	NP_001269092.1:p.Phe409SerfsTer?
XM_011543888.1:c.1374_1375insAG	XP_011542190.1:p.Phe459SerfsTer?
XM_011543889.1:c.1164_1165insAG	XP_011542191.1:p.Phe389SerfsTer?
XM_017029257.1:c.1386_1387insAG	XP_016884746.1:p.Phe463SerfsTer?
XM_017029258.1:c.1386_1387insAG	XP_016884747.1:p.Phe463SerfsTer?
NM_001127898.4:c.1374_1375insAG MANE Select	NP_001121370.1:p.Phe459SerfsTer?
NM_000084.5:c.1164_1165insAG	NP_000075.1:p.Phe389SerfsTer?
NM_001127899.4:c.1374_1375insAG	NP_001121371.1:p.Phe459SerfsTer?
NM_001282163.2:c.1224_1225insAG	NP_001269092.1:p.Phe409SerfsTer?