Canonical Allele Identifier: CA16041841
Gene: G6PC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371379
ClinVar RCV Id: RCV000411233
dbSNP Id: rs1057517227

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901012del , CM000679.2:g.42901012del GRCh38
NC_000017.10:g.41053029del , CM000679.1:g.41053029del GRCh37
NC_000017.9:g.38306555del NCBI36
NG_011808.1:g.5215del , LRG_147:g.5215del

Transcript Alleles

HGVS Amino-acid change
NM_000151.3:c.136del VV NP_000142.2:p.Leu46SerfsTer19
NM_001270397.1:c.136del VV NP_001257326.1:p.Leu46SerfsTer19
ENST00000253801.6:c.136del ENSP00000253801.1:p.Leu46SerfsTer19
ENST00000585489.1:c.136del ENSP00000466202.1:p.Leu46SerfsTer19
ENST00000588481.1:n.201del
ENST00000592383.5:c.136del ENSP00000465958.1:p.Leu46SerfsTer19