Canonical Allele Identifier: CA2580093769

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 1724158
• ClinVar RCV Id: RCV002306713

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901087del , CM000679.2:g.42901087del	GRCh38
NC_000017.10:g.41053104del , CM000679.1:g.41053104del	GRCh37
NC_000017.9:g.38306630del	NCBI36
NG_011808.1:g.5290del , LRG_147:g.5290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.211del MANE Select	ENSP00000253801.1:p.Leu71SerfsTer?
ENST00000253801.6:c.211del	ENSP00000253801.1:p.Leu71SerfsTer?
ENST00000585489.1:c.211del	ENSP00000466202.1:p.Leu71SerfsTer?
ENST00000588481.1:n.276del
ENST00000592383.5:c.211del	ENSP00000465958.1:p.Leu71SerfsTer?
NM_000151.3:c.211del	NP_000142.2:p.Leu71SerfsTer?
NM_001270397.1:c.211del	NP_001257326.1:p.Leu71SerfsTer?
NM_000151.4:c.211del MANE Select	NP_000142.2:p.Leu71SerfsTer?
NM_001270397.2:c.211del	NP_001257326.1:p.Leu71SerfsTer?