Canonical Allele Identifier: CA2260697421
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911163_42911164delinsCT , CM000679.2:g.42911163_42911164delinsCT GRCh38
NC_000017.10:g.41063180_41063181delinsCT , CM000679.1:g.41063180_41063181delinsCT GRCh37
NC_000017.9:g.38316706_38316707delinsCT NCBI36
NG_011808.1:g.15366_15367delinsCT , LRG_147:g.15366_15367delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.811_812delinsCT MANE Select ENSP00000253801.1:p.Leu271=
ENST00000253801.6:c.811_812delinsCT ENSP00000253801.1:p.Leu271=
ENST00000585489.1:c.*203_*204delinsCT ENSP00000466202.1:n.*203_*204delinsCT
ENST00000592383.5:c.*203_*204delinsCT ENSP00000465958.1:n.*203_*204delinsCT
NM_000151.3:c.811_812delinsCT NP_000142.2:p.Leu271=
NM_001270397.1:c.*203_*204delinsCT NP_001257326.1:n.*203_*204delinsCT
NM_000151.4:c.811_812delinsCT MANE Select NP_000142.2:p.Leu271=
NM_001270397.2:c.*203_*204delinsCT NP_001257326.1:n.*203_*204delinsCT
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