Canonical Allele Identifier: CA1153829655
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845635_11845637delinsCAA , CM000663.2:g.11845635_11845637delinsCAA GRCh38
NC_000001.10:g.11905692_11905694delinsCAA , CM000663.1:g.11905692_11905694delinsCAA GRCh37
NC_000001.9:g.11828279_11828281delinsCAA NCBI36
NG_012926.1:g.7147_7149delinsTTG , LRG_751:g.7147_7149delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1830_*1832delinsCAA (CLCN6) ENSP00000496938.1:n.*1830_*1832delinsCAA
ENST00000446542.5:n.650_652delinsCAA (NPPA-AS1)
NR_037806.1:n.1348_1350delinsCAA (NPPA-AS1)
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