Canonical Allele Identifier: CA2574214852
Gene: CLCN6 HGNC NCBI

Linked Data

gnomAD v4: 1-11816532-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11816536del , CM000663.2:g.11816536del GRCh38
NC_000001.10:g.11876593del , CM000663.1:g.11876593del GRCh37
NC_000001.9:g.11799180del NCBI36
NG_008766.1:g.15387del

Transcript Alleles

HGVS Amino-acid change
ENST00000346436.11:c.214-79del MANE Select ENSP00000234488.9:n.214-79del
ENST00000400892.3:c.214-79del ENSP00000496938.1:n.214-79del
ENST00000312413.10:c.148-79del ENSP00000308367.7:n.148-79del
ENST00000346436.10:c.214-79del ENSP00000234488.9:n.214-79del
ENST00000376490.7:n.214-79del
ENST00000376491.7:n.214-79del
ENST00000376492.3:n.214-79del
ENST00000376496.4:c.214-79del ENSP00000365679.3:n.214-79del
ENST00000376497.7:c.214-79del ENSP00000365680.3:n.214-79del
NM_001256959.1:c.148-79del NP_001243888.1:n.148-79del
NM_001286.3:c.214-79del NP_001277.1:n.214-79del
NR_046428.1:n.381-79del
NM_001286.4:c.214-79del NP_001277.1:n.214-79del
NM_001256959.2:c.148-79del NP_001243888.2:n.148-79del
NM_001286.5:c.214-79del MANE Select NP_001277.2:n.214-79del
NR_046428.2:n.286-79del
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