Canonical Allele Identifier: CA983871882

Gene: G6PC1

Linked Data

• gnomAD v3: 17-42911445-T-TG
• gnomAD v4: 17-42911445-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911446dup , CM000679.2:g.42911446dup	GRCh38
NC_000017.10:g.41063463dup , CM000679.1:g.41063463dup	GRCh37
NC_000017.9:g.38316989dup	NCBI36
NG_011808.1:g.15649dup , LRG_147:g.15649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.*20dup MANE Select	ENSP00000253801.1:n.*20dup
ENST00000253801.6:c.*20dup	ENSP00000253801.1:n.*20dup
ENST00000585489.1:c.*486dup	ENSP00000466202.1:n.*486dup
NM_000151.3:c.*20dup	NP_000142.2:n.*20dup
NM_001270397.1:c.*486dup	NP_001257326.1:n.*486dup
NM_000151.4:c.*20dup MANE Select	NP_000142.2:n.*20dup
NM_001270397.2:c.*486dup	NP_001257326.1:n.*486dup