Canonical Allele Identifier: CA2576281049
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911486_42911488del , CM000679.2:g.42911486_42911488del GRCh38
NC_000017.10:g.41063503_41063505del , CM000679.1:g.41063503_41063505del GRCh37
NC_000017.9:g.38317029_38317031del NCBI36
NG_011808.1:g.15689_15691del , LRG_147:g.15689_15691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*60_*62del MANE Select ENSP00000253801.1:n.*60_*62del
ENST00000253801.6:c.*60_*62del ENSP00000253801.1:n.*60_*62del
ENST00000585489.1:c.*526_*528del ENSP00000466202.1:n.*526_*528del
NM_000151.3:c.*60_*62del NP_000142.2:n.*60_*62del
NM_001270397.1:c.*526_*528del NP_001257326.1:n.*526_*528del
NM_000151.4:c.*60_*62del MANE Select NP_000142.2:n.*60_*62del
NM_001270397.2:c.*526_*528del NP_001257326.1:n.*526_*528del