Canonical Allele Identifier: CA983871883

Gene: G6PC1

Linked Data

• gnomAD v3: 17-42911447-T-TCGCCGTATCA
• gnomAD v4: 17-42911447-T-TCGCCGTATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911447_42911448insCGCCGTATCA , CM000679.2:g.42911447_42911448insCGCCGTATCA	GRCh38
NC_000017.10:g.41063464_41063465insCGCCGTATCA , CM000679.1:g.41063464_41063465insCGCCGTATCA	GRCh37
NC_000017.9:g.38316990_38316991insCGCCGTATCA	NCBI36
NG_011808.1:g.15650_15651insCGCCGTATCA , LRG_147:g.15650_15651insCGCCGTATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.*21_*22insCGCCGTATCA MANE Select	ENSP00000253801.1:n.*21_*22insCGCCGTATCA
ENST00000253801.6:c.*21_*22insCGCCGTATCA	ENSP00000253801.1:n.*21_*22insCGCCGTATCA
ENST00000585489.1:c.*487_*488insCGCCGTATCA	ENSP00000466202.1:n.*487_*488insCGCCGTATCA
NM_000151.3:c.*21_*22insCGCCGTATCA	NP_000142.2:n.*21_*22insCGCCGTATCA
NM_001270397.1:c.*487_*488insCGCCGTATCA	NP_001257326.1:n.*487_*488insCGCCGTATCA
NM_000151.4:c.*21_*22insCGCCGTATCA MANE Select	NP_000142.2:n.*21_*22insCGCCGTATCA
NM_001270397.2:c.*487_*488insCGCCGTATCA	NP_001257326.1:n.*487_*488insCGCCGTATCA