Canonical Allele Identifier: CA2260694195
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs1860672828
gnomAD v4: 17-42903871-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42903872del , CM000679.2:g.42903872del GRCh38
NC_000017.10:g.41055889del , CM000679.1:g.41055889del GRCh37
NC_000017.9:g.38309415del NCBI36
NG_011808.1:g.8075del , LRG_147:g.8075del

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.231-59del MANE Select ENSP00000253801.1:n.231-59del
ENST00000253801.6:c.231-59del ENSP00000253801.1:n.231-59del
ENST00000585489.1:c.231-59del ENSP00000466202.1:n.231-59del
ENST00000588481.1:n.296-59del
ENST00000592383.5:c.231-59del ENSP00000465958.1:n.231-59del
NM_000151.3:c.231-59del NP_000142.2:n.231-59del
NM_001270397.1:c.231-59del NP_001257326.1:n.231-59del
NM_000151.4:c.231-59del MANE Select NP_000142.2:n.231-59del
NM_001270397.2:c.231-59del NP_001257326.1:n.231-59del
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