Canonical Allele Identifier: CA2576280949
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901194_42901195insTT , CM000679.2:g.42901194_42901195insTT GRCh38
NC_000017.10:g.41053211_41053212insTT , CM000679.1:g.41053211_41053212insTT GRCh37
NC_000017.9:g.38306737_38306738insTT NCBI36
NG_011808.1:g.5397_5398insTT , LRG_147:g.5397_5398insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.230+88_230+89insTT MANE Select ENSP00000253801.1:n.230+88_230+89insTT
ENST00000253801.6:c.230+88_230+89insTT ENSP00000253801.1:n.230+88_230+89insTT
ENST00000585489.1:c.230+88_230+89insTT ENSP00000466202.1:n.230+88_230+89insTT
ENST00000588481.1:n.295+88_295+89insTT
ENST00000592383.5:c.230+88_230+89insTT ENSP00000465958.1:n.230+88_230+89insTT
NM_000151.3:c.230+88_230+89insTT NP_000142.2:n.230+88_230+89insTT
NM_001270397.1:c.230+88_230+89insTT NP_001257326.1:n.230+88_230+89insTT
NM_000151.4:c.230+88_230+89insTT MANE Select NP_000142.2:n.230+88_230+89insTT
NM_001270397.2:c.230+88_230+89insTT NP_001257326.1:n.230+88_230+89insTT