Canonical Allele Identifier: CA1153827812
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844022_11844023delinsTC , CM000663.2:g.11844022_11844023delinsTC GRCh38
NC_000001.10:g.11904079_11904080delinsTC , CM000663.1:g.11904079_11904080delinsTC GRCh37
NC_000001.9:g.11826666_11826667delinsTC NCBI36
NG_008766.1:g.42873_42874delinsTC
NG_012926.1:g.8761_8762delinsGA , LRG_751:g.8761_8762delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1690_*1691delinsTC (CLCN6) ENSP00000496938.1:n.*1690_*1691delinsTC
ENST00000446542.5:n.510_511delinsTC (NPPA-AS1)
NR_037806.1:n.1208_1209delinsTC (NPPA-AS1)