Canonical Allele Identifier: CA16041842
Gene: G6PC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370671
ClinVar RCV Id: RCV000409261
dbSNP Id: rs1057516674

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901026_42901027del , CM000679.2:g.42901026_42901027del GRCh38
NC_000017.10:g.41053043_41053044del , CM000679.1:g.41053043_41053044del GRCh37
NC_000017.9:g.38306569_38306570del NCBI36
NG_011808.1:g.5229_5230del , LRG_147:g.5229_5230del

Transcript Alleles

HGVS Amino-acid change
NM_000151.3:c.150_151del VV NP_000142.2:p.Trp50CysfsTer10
NM_001270397.1:c.150_151del VV NP_001257326.1:p.Trp50CysfsTer10
ENST00000253801.6:c.150_151del ENSP00000253801.1:p.Trp50CysfsTer10
ENST00000585489.1:c.150_151del ENSP00000466202.1:p.Trp50CysfsTer10
ENST00000588481.1:n.215_216del
ENST00000592383.5:c.150_151del ENSP00000465958.1:p.Trp50CysfsTer10