Canonical Allele Identifier: CA913012324

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41052943dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42900926dup , CM000679.2:g.42900926dup	GRCh38
NC_000017.10:g.41052943dup , CM000679.1:g.41052943dup	GRCh37
NC_000017.9:g.38306469dup	NCBI36
NG_011808.1:g.5129dup , LRG_147:g.5129dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.50dup MANE Select	ENSP00000253801.1:p.His17GlnfsTer?
ENST00000253801.6:c.50dup	ENSP00000253801.1:p.His17GlnfsTer?
ENST00000585489.1:c.50dup	ENSP00000466202.1:p.His17GlnfsTer?
ENST00000588481.1:n.115dup
ENST00000592383.5:c.50dup	ENSP00000465958.1:p.His17GlnfsTer?
NM_000151.3:c.50dup	NP_000142.2:p.His17GlnfsTer?
NM_001270397.1:c.50dup	NP_001257326.1:p.His17GlnfsTer?
NM_000151.4:c.50dup MANE Select	NP_000142.2:p.His17GlnfsTer?
NM_001270397.2:c.50dup	NP_001257326.1:p.His17GlnfsTer?