Canonical Allele Identifier: CA1153827268
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843571_11843575delinsCCCTA , CM000663.2:g.11843571_11843575delinsCCCTA GRCh38
NC_000001.10:g.11903628_11903632delinsCCCTA , CM000663.1:g.11903628_11903632delinsCCCTA GRCh37
NC_000001.9:g.11826215_11826219delinsCCCTA NCBI36
NG_008766.1:g.42422_42426delinsCCCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-163_*1402-159delinsCCCTA (CLCN6) ENSP00000496938.1:n.*1402-163_*1402-159delinsCCCTA
ENST00000446542.5:n.192-133_192-129delinsCCCTA (NPPA-AS1)
NR_037806.1:n.890-133_890-129delinsCCCTA (NPPA-AS1)