Canonical Allele Identifier: CA2260697508

Gene: G6PC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911369_42911379delinsTGTCATCCCCT , CM000679.2:g.42911369_42911379delinsTGTCATCCCCT	GRCh38
NC_000017.10:g.41063386_41063396delinsTGTCATCCCCT , CM000679.1:g.41063386_41063396delinsTGTCATCCCCT	GRCh37
NC_000017.9:g.38316912_38316922delinsTGTCATCCCCT	NCBI36
NG_011808.1:g.15572_15582delinsTGTCATCCCCT , LRG_147:g.15572_15582delinsTGTCATCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.1017_1027delinsTGTCATCCCCT MANE Select	ENSP00000253801.1:p.Ser339=
ENST00000253801.6:c.1017_1027delinsTGTCATCCCCT	ENSP00000253801.1:p.Ser339=
ENST00000585489.1:c.*409_*419delinsTGTCATCCCCT	ENSP00000466202.1:n.*409_*419delinsTGTCATCCCCT
NM_000151.3:c.1017_1027delinsTGTCATCCCCT	NP_000142.2:p.Ser339=
NM_001270397.1:c.*409_*419delinsTGTCATCCCCT	NP_001257326.1:n.*409_*419delinsTGTCATCCCCT
NM_000151.4:c.1017_1027delinsTGTCATCCCCT MANE Select	NP_000142.2:p.Ser339=
NM_001270397.2:c.*409_*419delinsTGTCATCCCCT	NP_001257326.1:n.*409_*419delinsTGTCATCCCCT