Canonical Allele Identifier: CA2809535890
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909460_42909461insACACA , CM000679.2:g.42909460_42909461insACACA GRCh38
NC_000017.10:g.41061477_41061478insACACA , CM000679.1:g.41061477_41061478insACACA GRCh37
NC_000017.9:g.38315003_38315004insACACA NCBI36
NG_011808.1:g.13663_13664insACACA , LRG_147:g.13663_13664insACACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.562+42_562+43insACACA MANE Select ENSP00000253801.1:n.562+42_562+43insACACA
ENST00000253801.6:c.562+42_562+43insACACA ENSP00000253801.1:n.562+42_562+43insACACA
ENST00000585489.1:c.447-1455_447-1454insACACA ENSP00000466202.1:n.447-1455_447-1454insACACA
ENST00000592383.5:c.485+42_485+43insACACA ENSP00000465958.1:n.485+42_485+43insACACA
NM_000151.3:c.562+42_562+43insACACA NP_000142.2:n.562+42_562+43insACACA
NM_001270397.1:c.485+42_485+43insACACA NP_001257326.1:n.485+42_485+43insACACA
NM_000151.4:c.562+42_562+43insACACA MANE Select NP_000142.2:n.562+42_562+43insACACA
NM_001270397.2:c.485+42_485+43insACACA NP_001257326.1:n.485+42_485+43insACACA