Canonical Allele Identifier: CA2638040774

Gene: G6PC1

Linked Data

• gnomAD v4: 17-42909273-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909274_42909275dup , CM000679.2:g.42909274_42909275dup	GRCh38
NC_000017.10:g.41061291_41061292dup , CM000679.1:g.41061291_41061292dup	GRCh37
NC_000017.9:g.38314817_38314818dup	NCBI36
NG_011808.1:g.13477_13478dup , LRG_147:g.13477_13478dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.447-29_447-28dup MANE Select	ENSP00000253801.1:n.447-29_447-28dup
ENST00000253801.6:c.447-29_447-28dup	ENSP00000253801.1:n.447-29_447-28dup
ENST00000585489.1:c.447-1641_447-1640dup	ENSP00000466202.1:n.447-1641_447-1640dup
ENST00000592383.5:c.370-29_370-28dup	ENSP00000465958.1:n.370-29_370-28dup
NM_000151.3:c.447-29_447-28dup	NP_000142.2:n.447-29_447-28dup
NM_001270397.1:c.370-29_370-28dup	NP_001257326.1:n.370-29_370-28dup
NM_000151.4:c.447-29_447-28dup MANE Select	NP_000142.2:n.447-29_447-28dup
NM_001270397.2:c.370-29_370-28dup	NP_001257326.1:n.370-29_370-28dup