Canonical Allele Identifier: CA2576280990
Gene: G6PC1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42903958del , CM000679.2:g.42903958del GRCh38
NC_000017.10:g.41055975del , CM000679.1:g.41055975del GRCh37
NC_000017.9:g.38309501del NCBI36
NG_011808.1:g.8161del , LRG_147:g.8161del

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.258del MANE Select ENSP00000253801.1:p.Trp86CysfsTer16
ENST00000253801.6:c.258del ENSP00000253801.1:p.Trp86CysfsTer16
ENST00000585489.1:c.258del ENSP00000466202.1:p.Trp86CysfsTer16
ENST00000588481.1:n.323del
ENST00000592383.5:c.258del ENSP00000465958.1:p.Trp86CysfsTer16
NM_000151.3:c.258del NP_000142.2:p.Trp86CysfsTer16
NM_001270397.1:c.258del NP_001257326.1:p.Trp86CysfsTer16
NM_000151.4:c.258del MANE Select NP_000142.2:p.Trp86CysfsTer16
NM_001270397.2:c.258del NP_001257326.1:p.Trp86CysfsTer16
Search 100 bp 5'
Search 100 bp 3'