Canonical Allele Identifier: CA2638039655

Gene: G6PC1

Linked Data

• gnomAD v4: 17-42901016-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901020del , CM000679.2:g.42901020del	GRCh38
NC_000017.10:g.41053037del , CM000679.1:g.41053037del	GRCh37
NC_000017.9:g.38306563del	NCBI36
NG_011808.1:g.5223del , LRG_147:g.5223del

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.144del MANE Select	ENSP00000253801.1:p.Ile49SerfsTer16
ENST00000253801.6:c.144del	ENSP00000253801.1:p.Ile49SerfsTer16
ENST00000585489.1:c.144del	ENSP00000466202.1:p.Ile49SerfsTer16
ENST00000588481.1:n.209del
ENST00000592383.5:c.144del	ENSP00000465958.1:p.Ile49SerfsTer16
NM_000151.3:c.144del	NP_000142.2:p.Ile49SerfsTer16
NM_001270397.1:c.144del	NP_001257326.1:p.Ile49SerfsTer16
NM_000151.4:c.144del MANE Select	NP_000142.2:p.Ile49SerfsTer16
NM_001270397.2:c.144del	NP_001257326.1:p.Ile49SerfsTer16