Canonical Allele Identifier: CA1153830880
Gene: CLCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11816467_11816468delinsAC , CM000663.2:g.11816467_11816468delinsAC GRCh38
NC_000001.10:g.11876524_11876525delinsAC , CM000663.1:g.11876524_11876525delinsAC GRCh37
NC_000001.9:g.11799111_11799112delinsAC NCBI36
NG_008766.1:g.15318_15319delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000346436.11:c.214-148_214-147delinsAC MANE Select ENSP00000234488.9:n.214-148_214-147delinsAC
ENST00000400892.3:c.214-148_214-147delinsAC ENSP00000496938.1:n.214-148_214-147delinsAC
ENST00000312413.10:c.148-148_148-147delinsAC ENSP00000308367.7:n.148-148_148-147delinsAC
ENST00000346436.10:c.214-148_214-147delinsAC ENSP00000234488.9:n.214-148_214-147delinsAC
ENST00000376490.7:n.214-148_214-147delinsAC
ENST00000376491.7:n.214-148_214-147delinsAC
ENST00000376492.3:n.214-148_214-147delinsAC
ENST00000376496.4:c.214-148_214-147delinsAC ENSP00000365679.3:n.214-148_214-147delinsAC
ENST00000376497.7:c.214-148_214-147delinsAC ENSP00000365680.3:n.214-148_214-147delinsAC
NM_001256959.1:c.148-148_148-147delinsAC NP_001243888.1:n.148-148_148-147delinsAC
NM_001286.3:c.214-148_214-147delinsAC NP_001277.1:n.214-148_214-147delinsAC
NR_046428.1:n.381-148_381-147delinsAC
NM_001286.4:c.214-148_214-147delinsAC NP_001277.1:n.214-148_214-147delinsAC
NM_001256959.2:c.148-148_148-147delinsAC NP_001243888.2:n.148-148_148-147delinsAC
NM_001286.5:c.214-148_214-147delinsAC MANE Select NP_001277.2:n.214-148_214-147delinsAC
NR_046428.2:n.286-148_286-147delinsAC