Canonical Allele Identifier: CA2643311350
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

gnomAD v4: 1-11846967-A-ATGGG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846970_11846971insGTGG , CM000663.2:g.11846970_11846971insGTGG GRCh38
NC_000001.10:g.11907027_11907028insGTGG , CM000663.1:g.11907027_11907028insGTGG GRCh37
NC_000001.9:g.11829614_11829615insGTGG NCBI36
NG_012926.1:g.5816_5817insCCCA , LRG_751:g.5816_5817insCCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-607_*1962-606insGTGG (CLCN6) ENSP00000496938.1:n.*1962-607_*1962-606insGTGG
ENST00000446542.5:n.782-464_782-463insGTGG (NPPA-AS1)
ENST00000376476.1:c.300+145_300+146insCCCA (NPPA) ENSP00000365659.1:n.300+145_300+146insCCCA
ENST00000376480.7:c.450+145_450+146insCCCA (NPPA) MANE Select ENSP00000365663.3:n.450+145_450+146insCCCA
ENST00000610706.1:c.450+145_450+146insCCCA (NPPA) ENSP00000483195.1:n.450+145_450+146insCCCA
NM_006172.3:c.450+145_450+146insCCCA , LRG_751t1:c.450+145_450+146insCCCA (NPPA) NP_006163.1:n.450+145_450+146insCCCA
NR_037806.1:n.1480-464_1480-463insGTGG (NPPA-AS1)
NM_006172.4:c.450+145_450+146insCCCA (NPPA) MANE Select NP_006163.1:n.450+145_450+146insCCCA
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