Canonical Allele Identifier: CA2809535889
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909458_42909459insAACCAAACACACCCAA , CM000679.2:g.42909458_42909459insAACCAAACACACCCAA GRCh38
NC_000017.10:g.41061475_41061476insAACCAAACACACCCAA , CM000679.1:g.41061475_41061476insAACCAAACACACCCAA GRCh37
NC_000017.9:g.38315001_38315002insAACCAAACACACCCAA NCBI36
NG_011808.1:g.13661_13662insAACCAAACACACCCAA , LRG_147:g.13661_13662insAACCAAACACACCCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.562+40_562+41insAACCAAACACACCCAA MANE Select ENSP00000253801.1:n.562+40_562+41insAACCAAACACACCCAA
ENST00000253801.6:c.562+40_562+41insAACCAAACACACCCAA ENSP00000253801.1:n.562+40_562+41insAACCAAACACACCCAA
ENST00000585489.1:c.447-1457_447-1456insAACCAAACACACCCAA ENSP00000466202.1:n.447-1457_447-1456insAACCAAACACACCCAA
ENST00000592383.5:c.485+40_485+41insAACCAAACACACCCAA ENSP00000465958.1:n.485+40_485+41insAACCAAACACACCCAA
NM_000151.3:c.562+40_562+41insAACCAAACACACCCAA NP_000142.2:n.562+40_562+41insAACCAAACACACCCAA
NM_001270397.1:c.485+40_485+41insAACCAAACACACCCAA NP_001257326.1:n.485+40_485+41insAACCAAACACACCCAA
NM_000151.4:c.562+40_562+41insAACCAAACACACCCAA MANE Select NP_000142.2:n.562+40_562+41insAACCAAACACACCCAA
NM_001270397.2:c.485+40_485+41insAACCAAACACACCCAA NP_001257326.1:n.485+40_485+41insAACCAAACACACCCAA