Canonical Allele Identifier: CA772150444

Gene: G6PC1

Linked Data

• dbSNP Id: rs1234908706
• MyVariant Identifiers: chr17:g.41061118del (hg19) ; chr17:g.42909101del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909103del , CM000679.2:g.42909103del	GRCh38
NC_000017.10:g.41061120del , CM000679.1:g.41061120del	GRCh37
NC_000017.9:g.38314646del	NCBI36
NG_011808.1:g.13306del , LRG_147:g.13306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.447-200del MANE Select	ENSP00000253801.1:n.447-200del
ENST00000253801.6:c.447-200del	ENSP00000253801.1:n.447-200del
ENST00000585489.1:c.446+1475del	ENSP00000466202.1:n.446+1475del
ENST00000592383.5:c.370-200del	ENSP00000465958.1:n.370-200del
NM_000151.3:c.447-200del	NP_000142.2:n.447-200del
NM_001270397.1:c.370-200del	NP_001257326.1:n.370-200del
NM_000151.4:c.447-200del MANE Select	NP_000142.2:n.447-200del
NM_001270397.2:c.370-200del	NP_001257326.1:n.370-200del