Canonical Allele Identifier: CA772149258

Gene: G6PC1

Linked Data

• dbSNP Id: rs1180397618
• gnomAD v3: 17-42903871-T-TA
• gnomAD v4: 17-42903871-T-TA
• MyVariant Identifiers: chr17:g.41055888_41055889insA (hg19) ; chr17:g.42903871_42903872insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42903872dup , CM000679.2:g.42903872dup	GRCh38
NC_000017.10:g.41055889dup , CM000679.1:g.41055889dup	GRCh37
NC_000017.9:g.38309415dup	NCBI36
NG_011808.1:g.8075dup , LRG_147:g.8075dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.231-59dup MANE Select	ENSP00000253801.1:n.231-59dup
ENST00000253801.6:c.231-59dup	ENSP00000253801.1:n.231-59dup
ENST00000585489.1:c.231-59dup	ENSP00000466202.1:n.231-59dup
ENST00000588481.1:n.296-59dup
ENST00000592383.5:c.231-59dup	ENSP00000465958.1:n.231-59dup
NM_000151.3:c.231-59dup	NP_000142.2:n.231-59dup
NM_001270397.1:c.231-59dup	NP_001257326.1:n.231-59dup
NM_000151.4:c.231-59dup MANE Select	NP_000142.2:n.231-59dup
NM_001270397.2:c.231-59dup	NP_001257326.1:n.231-59dup