Canonical Allele Identifier: CA2260697537
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911419_42911422delinsCGTT , CM000679.2:g.42911419_42911422delinsCGTT GRCh38
NC_000017.10:g.41063436_41063439delinsCGTT , CM000679.1:g.41063436_41063439delinsCGTT GRCh37
NC_000017.9:g.38316962_38316965delinsCGTT NCBI36
NG_011808.1:g.15622_15625delinsCGTT , LRG_147:g.15622_15625delinsCGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1067_1070delinsCGTT MANE Select ENSP00000253801.1:p.Ser356=
ENST00000253801.6:c.1067_1070delinsCGTT ENSP00000253801.1:p.Ser356=
ENST00000585489.1:c.*459_*462delinsCGTT ENSP00000466202.1:n.*459_*462delinsCGTT
NM_000151.3:c.1067_1070delinsCGTT NP_000142.2:p.Ser356=
NM_001270397.1:c.*459_*462delinsCGTT NP_001257326.1:n.*459_*462delinsCGTT
NM_000151.4:c.1067_1070delinsCGTT MANE Select NP_000142.2:p.Ser356=
NM_001270397.2:c.*459_*462delinsCGTT NP_001257326.1:n.*459_*462delinsCGTT
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