Canonical Allele Identifier: CA2638041653
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2784905
ClinVar RCV Id: RCV003624639
gnomAD v4: 17-42911355-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911356del , CM000679.2:g.42911356del GRCh38
NC_000017.10:g.41063373del , CM000679.1:g.41063373del GRCh37
NC_000017.9:g.38316899del NCBI36
NG_011808.1:g.15559del , LRG_147:g.15559del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1004del MANE Select ENSP00000253801.1:p.Leu335ArgfsTer?
ENST00000253801.6:c.1004del ENSP00000253801.1:p.Leu335ArgfsTer?
ENST00000585489.1:c.*396del ENSP00000466202.1:n.*396del
NM_000151.3:c.1004del NP_000142.2:p.Leu335ArgfsTer?
NM_001270397.1:c.*396del NP_001257326.1:n.*396del
NM_000151.4:c.1004del MANE Select NP_000142.2:p.Leu335ArgfsTer?
NM_001270397.2:c.*396del NP_001257326.1:n.*396del
Search 100 bp 5'
Search 100 bp 3'