Canonical Allele Identifier: CA2260696595

Gene: G6PC1

Linked Data

• dbSNP Id: rs2056080749
• gnomAD v4: 17-42909229-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909231_42909232del , CM000679.2:g.42909231_42909232del	GRCh38
NC_000017.10:g.41061248_41061249del , CM000679.1:g.41061248_41061249del	GRCh37
NC_000017.9:g.38314774_38314775del	NCBI36
NG_011808.1:g.13434_13435del , LRG_147:g.13434_13435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.447-72_447-71del MANE Select	ENSP00000253801.1:n.447-72_447-71del
ENST00000253801.6:c.447-72_447-71del	ENSP00000253801.1:n.447-72_447-71del
ENST00000585489.1:c.446+1603_446+1604del	ENSP00000466202.1:n.446+1603_446+1604del
ENST00000592383.5:c.370-72_370-71del	ENSP00000465958.1:n.370-72_370-71del
NM_000151.3:c.447-72_447-71del	NP_000142.2:n.447-72_447-71del
NM_001270397.1:c.370-72_370-71del	NP_001257326.1:n.370-72_370-71del
NM_000151.4:c.447-72_447-71del MANE Select	NP_000142.2:n.447-72_447-71del
NM_001270397.2:c.370-72_370-71del	NP_001257326.1:n.370-72_370-71del