Canonical Allele Identifier: CA1153827110
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843460_11843461delinsGC , CM000663.2:g.11843460_11843461delinsGC GRCh38
NC_000001.10:g.11903517_11903518delinsGC , CM000663.1:g.11903517_11903518delinsGC GRCh37
NC_000001.9:g.11826104_11826105delinsGC NCBI36
NG_008766.1:g.42311_42312delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-274_*1402-273delinsGC (CLCN6) ENSP00000496938.1:n.*1402-274_*1402-273delinsGC
ENST00000446542.5:n.192-244_192-243delinsGC (NPPA-AS1)
NR_037806.1:n.890-244_890-243delinsGC (NPPA-AS1)