Canonical Allele Identifier: CA1153827428
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843724_11843727delinsTCTC , CM000663.2:g.11843724_11843727delinsTCTC GRCh38
NC_000001.10:g.11903781_11903784delinsTCTC , CM000663.1:g.11903781_11903784delinsTCTC GRCh37
NC_000001.9:g.11826368_11826371delinsTCTC NCBI36
NG_008766.1:g.42575_42578delinsTCTC
NG_012926.1:g.9057_9060delinsGAGA , LRG_751:g.9057_9060delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-10_*1402-7delinsTCTC (CLCN6) ENSP00000496938.1:n.*1402-10_*1402-7delinsTCTC
ENST00000446542.5:n.212_215delinsTCTC (NPPA-AS1)
NR_037806.1:n.910_913delinsTCTC (NPPA-AS1)