Canonical Allele Identifier: CA2260692947

Gene: G6PC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901134_42901137delinsCAAG , CM000679.2:g.42901134_42901137delinsCAAG	GRCh38
NC_000017.10:g.41053151_41053154delinsCAAG , CM000679.1:g.41053151_41053154delinsCAAG	GRCh37
NC_000017.9:g.38306677_38306680delinsCAAG	NCBI36
NG_011808.1:g.5337_5340delinsCAAG , LRG_147:g.5337_5340delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.230+28_230+31delinsCAAG MANE Select	ENSP00000253801.1:n.230+28_230+31delinsCAAG
ENST00000253801.6:c.230+28_230+31delinsCAAG	ENSP00000253801.1:n.230+28_230+31delinsCAAG
ENST00000585489.1:c.230+28_230+31delinsCAAG	ENSP00000466202.1:n.230+28_230+31delinsCAAG
ENST00000588481.1:n.295+28_295+31delinsCAAG
ENST00000592383.5:c.230+28_230+31delinsCAAG	ENSP00000465958.1:n.230+28_230+31delinsCAAG
NM_000151.3:c.230+28_230+31delinsCAAG	NP_000142.2:n.230+28_230+31delinsCAAG
NM_001270397.1:c.230+28_230+31delinsCAAG	NP_001257326.1:n.230+28_230+31delinsCAAG
NM_000151.4:c.230+28_230+31delinsCAAG MANE Select	NP_000142.2:n.230+28_230+31delinsCAAG
NM_001270397.2:c.230+28_230+31delinsCAAG	NP_001257326.1:n.230+28_230+31delinsCAAG