Canonical Allele Identifier: CA2643310000
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844093del , CM000663.2:g.11844093del GRCh38
NC_000001.10:g.11904150del , CM000663.1:g.11904150del GRCh37
NC_000001.9:g.11826737del NCBI36
NG_008766.1:g.42944del
NG_012926.1:g.8694del , LRG_751:g.8694del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1741+20del (CLCN6) ENSP00000496938.1:n.*1741+20del
ENST00000446542.5:n.561+20del (NPPA-AS1)
NR_037806.1:n.1259+20del (NPPA-AS1)