Canonical Allele Identifier: CA2573154222
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1682472
ClinVar RCV Id: RCV002239882
dbSNP Id: rs2151929052
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42900882_42900883delinsAA , CM000679.2:g.42900882_42900883delinsAA GRCh38
NC_000017.10:g.41052899_41052900delinsAA , CM000679.1:g.41052899_41052900delinsAA GRCh37
NC_000017.9:g.38306425_38306426delinsAA NCBI36
NG_011808.1:g.5085_5086delinsAA , LRG_147:g.5085_5086delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.6_7delinsAA MANE Select ENSP00000253801.1:p.Glu3Lys
ENST00000253801.6:c.6_7delinsAA ENSP00000253801.1:p.Glu3Lys
ENST00000585489.1:c.6_7delinsAA ENSP00000466202.1:p.Glu3Lys
ENST00000588481.1:n.71_72delinsAA
ENST00000592383.5:c.6_7delinsAA ENSP00000465958.1:p.Glu3Lys
NM_000151.3:c.6_7delinsAA NP_000142.2:p.Glu3Lys
NM_001270397.1:c.6_7delinsAA NP_001257326.1:p.Glu3Lys
NM_000151.4:c.6_7delinsAA MANE Select NP_000142.2:p.Glu3Lys
NM_001270397.2:c.6_7delinsAA NP_001257326.1:p.Glu3Lys
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