Canonical Allele Identifier: CA2643309535
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843796_11843797insG , CM000663.2:g.11843796_11843797insG GRCh38
NC_000001.10:g.11903853_11903854insG , CM000663.1:g.11903853_11903854insG GRCh37
NC_000001.9:g.11826440_11826441insG NCBI36
NG_008766.1:g.42647_42648insG
NG_012926.1:g.8987_8988insC , LRG_751:g.8987_8988insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1464_*1465insG (CLCN6) ENSP00000496938.1:n.*1464_*1465insG
ENST00000446542.5:n.284_285insG (NPPA-AS1)
NR_037806.1:n.982_983insG (NPPA-AS1)