Canonical Allele Identifier: CA2695226086
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911279del , CM000679.2:g.42911279del GRCh38
NC_000017.10:g.41063296del , CM000679.1:g.41063296del GRCh37
NC_000017.9:g.38316822del NCBI36
NG_011808.1:g.15482del , LRG_147:g.15482del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.927del MANE Select ENSP00000253801.1:p.Phe309LeufsTer4
ENST00000253801.6:c.927del ENSP00000253801.1:p.Phe309LeufsTer4
ENST00000585489.1:c.*319del ENSP00000466202.1:n.*319del
ENST00000592383.5:c.*319del ENSP00000465958.1:n.*319del
NM_000151.3:c.927del NP_000142.2:p.Phe309LeufsTer4
NM_001270397.1:c.*319del NP_001257326.1:n.*319del
NM_000151.4:c.927del MANE Select NP_000142.2:p.Phe309LeufsTer4
NM_001270397.2:c.*319del NP_001257326.1:n.*319del