Canonical Allele Identifier: CA2742482070
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843469_11843470insAATGG , CM000663.2:g.11843469_11843470insAATGG GRCh38
NC_000001.10:g.11903526_11903527insAATGG , CM000663.1:g.11903526_11903527insAATGG GRCh37
NC_000001.9:g.11826113_11826114insAATGG NCBI36
NG_008766.1:g.42320_42321insAATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-265_*1402-264insAATGG (CLCN6) ENSP00000496938.1:n.*1402-265_*1402-264insAATGG
ENST00000446542.5:n.192-235_192-234insAATGG (NPPA-AS1)
NR_037806.1:n.890-235_890-234insAATGG (NPPA-AS1)
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