Canonical Allele Identifier: CA1139665564

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 973572
• ClinVar RCV Id: RCV001250217
• dbSNP Id: rs2056090806

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42910915_42911427del , CM000679.2:g.42910915_42911427del	GRCh38
NC_000017.10:g.41062932_41063444del , CM000679.1:g.41062932_41063444del	GRCh37
NC_000017.9:g.38316458_38316970del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.563_*1del
ENST00000253801.6:c.563_*1del
ENST00000585489.1:c.447_*467del
NM_000151.3:c.563_*1del
NM_001270397.1:c.486_*467del
NM_000151.4:c.563_*1del
NM_001270397.2:c.486_*467del