Canonical Allele Identifier: CA2638040715

Gene: G6PC1

Linked Data

• gnomAD v4: 17-42909210-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909211_42909212del , CM000679.2:g.42909211_42909212del	GRCh38
NC_000017.10:g.41061228_41061229del , CM000679.1:g.41061228_41061229del	GRCh37
NC_000017.9:g.38314754_38314755del	NCBI36
NG_011808.1:g.13414_13415del , LRG_147:g.13414_13415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.447-92_447-91del MANE Select	ENSP00000253801.1:n.447-92_447-91del
ENST00000253801.6:c.447-92_447-91del	ENSP00000253801.1:n.447-92_447-91del
ENST00000585489.1:c.446+1583_446+1584del	ENSP00000466202.1:n.446+1583_446+1584del
ENST00000592383.5:c.370-92_370-91del	ENSP00000465958.1:n.370-92_370-91del
NM_000151.3:c.447-92_447-91del	NP_000142.2:n.447-92_447-91del
NM_001270397.1:c.370-92_370-91del	NP_001257326.1:n.370-92_370-91del
NM_000151.4:c.447-92_447-91del MANE Select	NP_000142.2:n.447-92_447-91del
NM_001270397.2:c.370-92_370-91del	NP_001257326.1:n.370-92_370-91del