Canonical Allele Identifier: CA1153827787
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844009_11844012delinsCAGA , CM000663.2:g.11844009_11844012delinsCAGA GRCh38
NC_000001.10:g.11904066_11904069delinsCAGA , CM000663.1:g.11904066_11904069delinsCAGA GRCh37
NC_000001.9:g.11826653_11826656delinsCAGA NCBI36
NG_008766.1:g.42860_42863delinsCAGA
NG_012926.1:g.8772_8775delinsTCTG , LRG_751:g.8772_8775delinsTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1677_*1680delinsCAGA (CLCN6) ENSP00000496938.1:n.*1677_*1680delinsCAGA
ENST00000446542.5:n.497_500delinsCAGA (NPPA-AS1)
NR_037806.1:n.1195_1198delinsCAGA (NPPA-AS1)