Canonical Allele Identifier: CA2260692992

Gene: G6PC1

Linked Data

• dbSNP Id: rs2056024322

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901221_42901222insAAGGAG , CM000679.2:g.42901221_42901222insAAGGAG	GRCh38
NC_000017.10:g.41053238_41053239insAAGGAG , CM000679.1:g.41053238_41053239insAAGGAG	GRCh37
NC_000017.9:g.38306764_38306765insAAGGAG	NCBI36
NG_011808.1:g.5424_5425insAAGGAG , LRG_147:g.5424_5425insAAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.230+115_230+116insAAGGAG MANE Select	ENSP00000253801.1:n.230+115_230+116insAAGGAG
ENST00000253801.6:c.230+115_230+116insAAGGAG	ENSP00000253801.1:n.230+115_230+116insAAGGAG
ENST00000585489.1:c.230+115_230+116insAAGGAG	ENSP00000466202.1:n.230+115_230+116insAAGGAG
ENST00000588481.1:n.295+115_295+116insAAGGAG
ENST00000592383.5:c.230+115_230+116insAAGGAG	ENSP00000465958.1:n.230+115_230+116insAAGGAG
NM_000151.3:c.230+115_230+116insAAGGAG	NP_000142.2:n.230+115_230+116insAAGGAG
NM_001270397.1:c.230+115_230+116insAAGGAG	NP_001257326.1:n.230+115_230+116insAAGGAG
NM_000151.4:c.230+115_230+116insAAGGAG MANE Select	NP_000142.2:n.230+115_230+116insAAGGAG
NM_001270397.2:c.230+115_230+116insAAGGAG	NP_001257326.1:n.230+115_230+116insAAGGAG