Canonical Allele Identifier: CA2580613141

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 1682510
• ClinVar RCV Id: RCV002237499
• dbSNP Id: rs2151931748

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909359_42909362dup , CM000679.2:g.42909359_42909362dup	GRCh38
NC_000017.10:g.41061376_41061379dup , CM000679.1:g.41061376_41061379dup	GRCh37
NC_000017.9:g.38314902_38314905dup	NCBI36
NG_011808.1:g.13562_13565dup , LRG_147:g.13562_13565dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.503_506dup MANE Select	ENSP00000253801.1:p.Arg170ValfsTer?
ENST00000253801.6:c.503_506dup	ENSP00000253801.1:p.Arg170ValfsTer?
ENST00000585489.1:c.447-1556_447-1553dup	ENSP00000466202.1:n.447-1556_447-1553dup
ENST00000592383.5:c.426_429dup	ENSP00000465958.1:p.Thr144CysfsTer?
NM_000151.3:c.503_506dup	NP_000142.2:p.Arg170ValfsTer?
NM_001270397.1:c.426_429dup	NP_001257326.1:p.Thr144CysfsTer?
NM_000151.4:c.503_506dup MANE Select	NP_000142.2:p.Arg170ValfsTer?
NM_001270397.2:c.426_429dup	NP_001257326.1:p.Thr144CysfsTer?