Canonical Allele Identifier: CA658658619

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 477018
• ClinVar RCV Id: RCV000536905
• dbSNP Id: rs1555560204

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911370_42911379delinsA , CM000679.2:g.42911370_42911379delinsA	GRCh38
NC_000017.10:g.41063387_41063396delinsA , CM000679.1:g.41063387_41063396delinsA	GRCh37
NC_000017.9:g.38316913_38316922delinsA	NCBI36
NG_011808.1:g.15573_15582delinsA , LRG_147:g.15573_15582delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.1018_1027delinsA MANE Select	ENSP00000253801.1:p.Val340_Tyr343delinsAsn
ENST00000253801.6:c.1018_1027delinsA	ENSP00000253801.1:p.Val340_Tyr343delinsAsn
ENST00000585489.1:c.*410_*419delinsA	ENSP00000466202.1:n.*410_*419delinsA
NM_000151.3:c.1018_1027delinsA	NP_000142.2:p.Val340_Tyr343delinsAsn
NM_001270397.1:c.*410_*419delinsA	NP_001257326.1:n.*410_*419delinsA
NM_000151.4:c.1018_1027delinsA MANE Select	NP_000142.2:p.Val340_Tyr343delinsAsn
NM_001270397.2:c.*410_*419delinsA	NP_001257326.1:n.*410_*419delinsA