Canonical Allele Identifier: CA2809535966
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911332dup , CM000679.2:g.42911332dup GRCh38
NC_000017.10:g.41063349dup , CM000679.1:g.41063349dup GRCh37
NC_000017.9:g.38316875dup NCBI36
NG_011808.1:g.15535dup , LRG_147:g.15535dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.980dup MANE Select ENSP00000253801.1:p.Cys328LeufsTer?
ENST00000253801.6:c.980dup ENSP00000253801.1:p.Cys328LeufsTer?
ENST00000585489.1:c.*372dup ENSP00000466202.1:n.*372dup
ENST00000592383.5:c.*372dup ENSP00000465958.1:n.*372dup
NM_000151.3:c.980dup NP_000142.2:p.Cys328LeufsTer?
NM_001270397.1:c.*372dup NP_001257326.1:n.*372dup
NM_000151.4:c.980dup MANE Select NP_000142.2:p.Cys328LeufsTer?
NM_001270397.2:c.*372dup NP_001257326.1:n.*372dup
Search 100 bp 5'
Search 100 bp 3'