Canonical Allele Identifier: CA2842221112

Gene: G6PC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42903948dup , CM000679.2:g.42903948dup	GRCh38
NC_000017.10:g.41055965dup , CM000679.1:g.41055965dup	GRCh37
NC_000017.9:g.38309491dup	NCBI36
NG_011808.1:g.8151dup , LRG_147:g.8151dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.248dup MANE Select	ENSP00000253801.1:p.Pro84SerfsTer9
ENST00000253801.6:c.248dup	ENSP00000253801.1:p.Pro84SerfsTer9
ENST00000585489.1:c.248dup	ENSP00000466202.1:p.Pro84SerfsTer9
ENST00000588481.1:n.313dup
ENST00000592383.5:c.248dup	ENSP00000465958.1:p.Pro84SerfsTer9
NM_000151.3:c.248dup	NP_000142.2:p.Pro84SerfsTer9
NM_001270397.1:c.248dup	NP_001257326.1:p.Pro84SerfsTer9
NM_000151.4:c.248dup MANE Select	NP_000142.2:p.Pro84SerfsTer9
NM_001270397.2:c.248dup	NP_001257326.1:p.Pro84SerfsTer9