Canonical Allele Identifier: CA2638041600

Gene: G6PC1

Linked Data

• gnomAD v4: 17-42911291-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911296dup , CM000679.2:g.42911296dup	GRCh38
NC_000017.10:g.41063313dup , CM000679.1:g.41063313dup	GRCh37
NC_000017.9:g.38316839dup	NCBI36
NG_011808.1:g.15499dup , LRG_147:g.15499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.944dup MANE Select	ENSP00000253801.1:p.Ser316IlefsTer?
ENST00000253801.6:c.944dup	ENSP00000253801.1:p.Ser316IlefsTer?
ENST00000585489.1:c.*336dup	ENSP00000466202.1:n.*336dup
ENST00000592383.5:c.*336dup	ENSP00000465958.1:n.*336dup
NM_000151.3:c.944dup	NP_000142.2:p.Ser316IlefsTer?
NM_001270397.1:c.*336dup	NP_001257326.1:n.*336dup
NM_000151.4:c.944dup MANE Select	NP_000142.2:p.Ser316IlefsTer?
NM_001270397.2:c.*336dup	NP_001257326.1:n.*336dup