Canonical Allele Identifier: CA2693737104

Gene: CLCN5

Linked Data

• gnomAD v4: X-50086529-TTTATCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086530_50086535del , CM000685.2:g.50086530_50086535del	GRCh38
NC_000023.10:g.49851187_49851192del , CM000685.1:g.49851187_49851192del	GRCh37
NC_000023.9:g.49737927_49737932del	NCBI36
NG_007159.3:g.168915_168920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1217_1222del MANE Select	ENSP00000365259.3:p.Phe406_Arg408delinsCys
ENST00000642383.1:c.467_472del	ENSP00000496353.1:p.Phe156_Arg158delinsCys
ENST00000642885.1:c.1007_1012del	ENSP00000496632.1:p.Phe336_Arg338delinsCys
ENST00000643129.1:c.1504_1509del
ENST00000646398.1:c.*392_*397del	ENSP00000495122.1:n.*392_*397del
ENST00000307367.2:c.1007_1012del	ENSP00000304257.2:p.Phe336_Arg338delinsCys
ENST00000376088.7:c.1217_1222del	ENSP00000365256.3:p.Phe406_Arg408delinsCys
ENST00000376091.7:c.1217_1222del	ENSP00000365259.3:p.Phe406_Arg408delinsCys
ENST00000376108.7:c.1007_1012del	ENSP00000365276.3:p.Phe336_Arg338delinsCys
NM_000084.4:c.1007_1012del	NP_000075.1:p.Phe336_Arg338delinsCys
NM_001127898.3:c.1217_1222del	NP_001121370.1:p.Phe406_Arg408delinsCys
NM_001127899.3:c.1217_1222del	NP_001121371.1:p.Phe406_Arg408delinsCys
NM_001282163.1:c.1067_1072del	NP_001269092.1:p.Phe356_Arg358delinsCys
XM_011543888.1:c.1217_1222del	XP_011542190.1:p.Phe406_Arg408delinsCys
XM_011543889.1:c.1007_1012del	XP_011542191.1:p.Phe336_Arg338delinsCys
XM_017029257.1:c.1229_1234del	XP_016884746.1:p.Phe410_Arg412delinsCys
XM_017029258.1:c.1229_1234del	XP_016884747.1:p.Phe410_Arg412delinsCys
NM_001127898.4:c.1217_1222del MANE Select	NP_001121370.1:p.Phe406_Arg408delinsCys
NM_000084.5:c.1007_1012del	NP_000075.1:p.Phe336_Arg338delinsCys
NM_001127899.4:c.1217_1222del	NP_001121371.1:p.Phe406_Arg408delinsCys
NM_001282163.2:c.1067_1072del	NP_001269092.1:p.Phe356_Arg358delinsCys