Canonical Allele Identifier: CA983870782

Gene: G6PC1

Linked Data

• dbSNP Id: rs2056080640
• gnomAD v3: 17-42909216-GCCA-G
• gnomAD v4: 17-42909216-GCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909217_42909219del , CM000679.2:g.42909217_42909219del	GRCh38
NC_000017.10:g.41061234_41061236del , CM000679.1:g.41061234_41061236del	GRCh37
NC_000017.9:g.38314760_38314762del	NCBI36
NG_011808.1:g.13420_13422del , LRG_147:g.13420_13422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.447-86_447-84del MANE Select	ENSP00000253801.1:n.447-86_447-84del
ENST00000253801.6:c.447-86_447-84del	ENSP00000253801.1:n.447-86_447-84del
ENST00000585489.1:c.446+1589_446+1591del	ENSP00000466202.1:n.446+1589_446+1591del
ENST00000592383.5:c.370-86_370-84del	ENSP00000465958.1:n.370-86_370-84del
NM_000151.3:c.447-86_447-84del	NP_000142.2:n.447-86_447-84del
NM_001270397.1:c.370-86_370-84del	NP_001257326.1:n.370-86_370-84del
NM_000151.4:c.447-86_447-84del MANE Select	NP_000142.2:n.447-86_447-84del
NM_001270397.2:c.370-86_370-84del	NP_001257326.1:n.370-86_370-84del