Canonical Allele Identifier: CA626220916
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs1567706646
gnomAD v2: 17-41063436-CG-C
gnomAD v4: 17-42911419-CG-C
MyVariant Identifiers: chr17:g.41063437_41063439delinsTT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911420del , CM000679.2:g.42911420del GRCh38
NC_000017.10:g.41063437del , CM000679.1:g.41063437del GRCh37
NC_000017.9:g.38316963del NCBI36
NG_011808.1:g.15623del , LRG_147:g.15623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1068del MANE Select ENSP00000253801.1:p.Leu357CysfsTer10
ENST00000253801.6:c.1068del ENSP00000253801.1:p.Leu357CysfsTer10
ENST00000585489.1:c.*460del ENSP00000466202.1:n.*460del
NM_000151.3:c.1068del NP_000142.2:p.Leu357CysfsTer10
NM_001270397.1:c.*460del NP_001257326.1:n.*460del
NM_000151.4:c.1068del MANE Select NP_000142.2:p.Leu357CysfsTer10
NM_001270397.2:c.*460del NP_001257326.1:n.*460del
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