Canonical Allele Identifier: CA2260697572
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911474_42911477delinsTGAG , CM000679.2:g.42911474_42911477delinsTGAG GRCh38
NC_000017.10:g.41063491_41063494delinsTGAG , CM000679.1:g.41063491_41063494delinsTGAG GRCh37
NC_000017.9:g.38317017_38317020delinsTGAG NCBI36
NG_011808.1:g.15677_15680delinsTGAG , LRG_147:g.15677_15680delinsTGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*48_*51delinsTGAG MANE Select ENSP00000253801.1:n.*48_*51delinsTGAG
ENST00000253801.6:c.*48_*51delinsTGAG ENSP00000253801.1:n.*48_*51delinsTGAG
ENST00000585489.1:c.*514_*517delinsTGAG ENSP00000466202.1:n.*514_*517delinsTGAG
NM_000151.3:c.*48_*51delinsTGAG NP_000142.2:n.*48_*51delinsTGAG
NM_001270397.1:c.*514_*517delinsTGAG NP_001257326.1:n.*514_*517delinsTGAG
NM_000151.4:c.*48_*51delinsTGAG MANE Select NP_000142.2:n.*48_*51delinsTGAG
NM_001270397.2:c.*514_*517delinsTGAG NP_001257326.1:n.*514_*517delinsTGAG
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