Canonical Allele Identifier: CA2643310003
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11844096-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844098del , CM000663.2:g.11844098del GRCh38
NC_000001.10:g.11904155del , CM000663.1:g.11904155del GRCh37
NC_000001.9:g.11826742del NCBI36
NG_008766.1:g.42949del
NG_012926.1:g.8687del , LRG_751:g.8687del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1741+25del (CLCN6) ENSP00000496938.1:n.*1741+25del
ENST00000446542.5:n.561+25del (NPPA-AS1)
NR_037806.1:n.1259+25del (NPPA-AS1)
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