Canonical Allele Identifier: CA2638040924

Gene: G6PC1

Linked Data

• gnomAD v4: 17-42909519-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909519_42909520insT , CM000679.2:g.42909519_42909520insT	GRCh38
NC_000017.10:g.41061536_41061537insT , CM000679.1:g.41061536_41061537insT	GRCh37
NC_000017.9:g.38315062_38315063insT	NCBI36
NG_011808.1:g.13722_13723insT , LRG_147:g.13722_13723insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.562+101_562+102insT MANE Select	ENSP00000253801.1:n.562+101_562+102insT
ENST00000253801.6:c.562+101_562+102insT	ENSP00000253801.1:n.562+101_562+102insT
ENST00000585489.1:c.447-1396_447-1395insT	ENSP00000466202.1:n.447-1396_447-1395insT
ENST00000592383.5:c.485+101_485+102insT	ENSP00000465958.1:n.485+101_485+102insT
NM_000151.3:c.562+101_562+102insT	NP_000142.2:n.562+101_562+102insT
NM_001270397.1:c.485+101_485+102insT	NP_001257326.1:n.485+101_485+102insT
NM_000151.4:c.562+101_562+102insT MANE Select	NP_000142.2:n.562+101_562+102insT
NM_001270397.2:c.485+101_485+102insT	NP_001257326.1:n.485+101_485+102insT