Canonical Allele Identifier: CA2695226089
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911386_42911387delinsGA , CM000679.2:g.42911386_42911387delinsGA GRCh38
NC_000017.10:g.41063403_41063404delinsGA , CM000679.1:g.41063403_41063404delinsGA GRCh37
NC_000017.9:g.38316929_38316930delinsGA NCBI36
NG_011808.1:g.15589_15590delinsGA , LRG_147:g.15589_15590delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1034_1035delinsGA MANE Select ENSP00000253801.1:p.Leu345Arg
ENST00000253801.6:c.1034_1035delinsGA ENSP00000253801.1:p.Leu345Arg
ENST00000585489.1:c.*426_*427delinsGA ENSP00000466202.1:n.*426_*427delinsGA
NM_000151.3:c.1034_1035delinsGA NP_000142.2:p.Leu345Arg
NM_001270397.1:c.*426_*427delinsGA NP_001257326.1:n.*426_*427delinsGA
NM_000151.4:c.1034_1035delinsGA MANE Select NP_000142.2:p.Leu345Arg
NM_001270397.2:c.*426_*427delinsGA NP_001257326.1:n.*426_*427delinsGA
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