Canonical Allele Identifier: CA2260697507
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911369_42911378delinsTGTCATCCCC , CM000679.2:g.42911369_42911378delinsTGTCATCCCC GRCh38
NC_000017.10:g.41063386_41063395delinsTGTCATCCCC , CM000679.1:g.41063386_41063395delinsTGTCATCCCC GRCh37
NC_000017.9:g.38316912_38316921delinsTGTCATCCCC NCBI36
NG_011808.1:g.15572_15581delinsTGTCATCCCC , LRG_147:g.15572_15581delinsTGTCATCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1017_1026delinsTGTCATCCCC MANE Select ENSP00000253801.1:p.Ser339=
ENST00000253801.6:c.1017_1026delinsTGTCATCCCC ENSP00000253801.1:p.Ser339=
ENST00000585489.1:c.*409_*418delinsTGTCATCCCC ENSP00000466202.1:n.*409_*418delinsTGTCATCCCC
NM_000151.3:c.1017_1026delinsTGTCATCCCC NP_000142.2:p.Ser339=
NM_001270397.1:c.*409_*418delinsTGTCATCCCC NP_001257326.1:n.*409_*418delinsTGTCATCCCC
NM_000151.4:c.1017_1026delinsTGTCATCCCC MANE Select NP_000142.2:p.Ser339=
NM_001270397.2:c.*409_*418delinsTGTCATCCCC NP_001257326.1:n.*409_*418delinsTGTCATCCCC
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