Canonical Allele Identifier: CA772150591

Gene: G6PC1

Linked Data

• dbSNP Id: rs1456577993
• gnomAD v3: 17-42909526-ACT-A
• gnomAD v4: 17-42909526-ACT-A
• MyVariant Identifiers: chr17:g.41061544_41061545del (hg19) ; chr17:g.42909527_42909528del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909527_42909528del , CM000679.2:g.42909527_42909528del	GRCh38
NC_000017.10:g.41061544_41061545del , CM000679.1:g.41061544_41061545del	GRCh37
NC_000017.9:g.38315070_38315071del	NCBI36
NG_011808.1:g.13730_13731del , LRG_147:g.13730_13731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.562+109_562+110del MANE Select	ENSP00000253801.1:n.562+109_562+110del
ENST00000253801.6:c.562+109_562+110del	ENSP00000253801.1:n.562+109_562+110del
ENST00000585489.1:c.447-1388_447-1387del	ENSP00000466202.1:n.447-1388_447-1387del
ENST00000592383.5:c.485+109_485+110del	ENSP00000465958.1:n.485+109_485+110del
NM_000151.3:c.562+109_562+110del	NP_000142.2:n.562+109_562+110del
NM_001270397.1:c.485+109_485+110del	NP_001257326.1:n.485+109_485+110del
NM_000151.4:c.562+109_562+110del MANE Select	NP_000142.2:n.562+109_562+110del
NM_001270397.2:c.485+109_485+110del	NP_001257326.1:n.485+109_485+110del