Canonical Allele Identifier: CA2576281007

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 3001814
• ClinVar RCV Id: RCV003862877

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909443_42909446del , CM000679.2:g.42909443_42909446del	GRCh38
NC_000017.10:g.41061460_41061463del , CM000679.1:g.41061460_41061463del	GRCh37
NC_000017.9:g.38314986_38314989del	NCBI36
NG_011808.1:g.13646_13649del , LRG_147:g.13646_13649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.562+25_562+28del MANE Select	ENSP00000253801.1:n.562+25_562+28del
ENST00000253801.6:c.562+25_562+28del	ENSP00000253801.1:n.562+25_562+28del
ENST00000585489.1:c.447-1472_447-1469del	ENSP00000466202.1:n.447-1472_447-1469del
ENST00000592383.5:c.485+25_485+28del	ENSP00000465958.1:n.485+25_485+28del
NM_000151.3:c.562+25_562+28del	NP_000142.2:n.562+25_562+28del
NM_001270397.1:c.485+25_485+28del	NP_001257326.1:n.485+25_485+28del
NM_000151.4:c.562+25_562+28del MANE Select	NP_000142.2:n.562+25_562+28del
NM_001270397.2:c.485+25_485+28del	NP_001257326.1:n.485+25_485+28del