Canonical Allele Identifier: CA1153827370
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843682_11843685delinsCGTT , CM000663.2:g.11843682_11843685delinsCGTT GRCh38
NC_000001.10:g.11903739_11903742delinsCGTT , CM000663.1:g.11903739_11903742delinsCGTT GRCh37
NC_000001.9:g.11826326_11826329delinsCGTT NCBI36
NG_008766.1:g.42533_42536delinsCGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-52_*1402-49delinsCGTT (CLCN6) ENSP00000496938.1:n.*1402-52_*1402-49delinsCGTT
ENST00000446542.5:n.192-22_192-19delinsCGTT (NPPA-AS1)
NR_037806.1:n.890-22_890-19delinsCGTT (NPPA-AS1)