Canonical Allele Identifier: CA2573154222

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 1682472
• ClinVar RCV Id: RCV002239882
• dbSNP Id: rs2151929052

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