Canonical Allele Identifier: CA658824740
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 556906
ClinVar RCV Id: RCV000672972
dbSNP Id: rs1555560185
MyVariant Identifiers: chr17:g.42911304_42911305insGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911304_42911305insGT , CM000679.2:g.42911304_42911305insGT GRCh38
NC_000017.10:g.41063321_41063322insGT , CM000679.1:g.41063321_41063322insGT GRCh37
NC_000017.9:g.38316847_38316848insGT NCBI36
NG_011808.1:g.15507_15508insGT , LRG_147:g.15507_15508insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.952_953insGT MANE Select ENSP00000253801.1:p.Val318GlyfsTer16
ENST00000253801.6:c.952_953insGT ENSP00000253801.1:p.Val318GlyfsTer16
ENST00000585489.1:c.*344_*345insGT ENSP00000466202.1:n.*344_*345insGT
ENST00000592383.5:c.*344_*345insGT ENSP00000465958.1:n.*344_*345insGT
NM_000151.3:c.952_953insGT NP_000142.2:p.Val318GlyfsTer16
NM_001270397.1:c.*344_*345insGT NP_001257326.1:n.*344_*345insGT
NM_000151.4:c.952_953insGT MANE Select NP_000142.2:p.Val318GlyfsTer16
NM_001270397.2:c.*344_*345insGT NP_001257326.1:n.*344_*345insGT
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