Canonical Allele Identifier: CA983871924

Gene: G6PC1

Linked Data

• gnomAD v3: 17-42911459-AACCATGC-A
• gnomAD v4: 17-42911459-AACCATGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911460_42911466del , CM000679.2:g.42911460_42911466del	GRCh38
NC_000017.10:g.41063477_41063483del , CM000679.1:g.41063477_41063483del	GRCh37
NC_000017.9:g.38317003_38317009del	NCBI36
NG_011808.1:g.15663_15669del , LRG_147:g.15663_15669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.*34_*40del MANE Select	ENSP00000253801.1:n.*34_*40del
ENST00000253801.6:c.*34_*40del	ENSP00000253801.1:n.*34_*40del
ENST00000585489.1:c.*500_*506del	ENSP00000466202.1:n.*500_*506del
NM_000151.3:c.*34_*40del	NP_000142.2:n.*34_*40del
NM_001270397.1:c.*500_*506del	NP_001257326.1:n.*500_*506del
NM_000151.4:c.*34_*40del MANE Select	NP_000142.2:n.*34_*40del
NM_001270397.2:c.*500_*506del	NP_001257326.1:n.*500_*506del