Canonical Allele Identifier: CA2260697492
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911329_42911332delinsCCTT , CM000679.2:g.42911329_42911332delinsCCTT GRCh38
NC_000017.10:g.41063346_41063349delinsCCTT , CM000679.1:g.41063346_41063349delinsCCTT GRCh37
NC_000017.9:g.38316872_38316875delinsCCTT NCBI36
NG_011808.1:g.15532_15535delinsCCTT , LRG_147:g.15532_15535delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.977_980delinsCCTT MANE Select ENSP00000253801.1:p.Ser326=
ENST00000253801.6:c.977_980delinsCCTT ENSP00000253801.1:p.Ser326=
ENST00000585489.1:c.*369_*372delinsCCTT ENSP00000466202.1:n.*369_*372delinsCCTT
ENST00000592383.5:c.*369_*372delinsCCTT ENSP00000465958.1:n.*369_*372delinsCCTT
NM_000151.3:c.977_980delinsCCTT NP_000142.2:p.Ser326=
NM_001270397.1:c.*369_*372delinsCCTT NP_001257326.1:n.*369_*372delinsCCTT
NM_000151.4:c.977_980delinsCCTT MANE Select NP_000142.2:p.Ser326=
NM_001270397.2:c.*369_*372delinsCCTT NP_001257326.1:n.*369_*372delinsCCTT
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