Canonical Allele Identifier: CA772148624

Gene: G6PC1

Linked Data

• dbSNP Id: rs1318830779
• gnomAD v4: 17-42901244-CTT-C
• MyVariant Identifiers: chr17:g.41053262_41053263del (hg19) ; chr17:g.42901245_42901246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901246_42901247del , CM000679.2:g.42901246_42901247del	GRCh38
NC_000017.10:g.41053263_41053264del , CM000679.1:g.41053263_41053264del	GRCh37
NC_000017.9:g.38306789_38306790del	NCBI36
NG_011808.1:g.5449_5450del , LRG_147:g.5449_5450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.230+140_230+141del MANE Select	ENSP00000253801.1:n.230+140_230+141del
ENST00000253801.6:c.230+140_230+141del	ENSP00000253801.1:n.230+140_230+141del
ENST00000585489.1:c.230+140_230+141del	ENSP00000466202.1:n.230+140_230+141del
ENST00000588481.1:n.295+140_295+141del
ENST00000592383.5:c.230+140_230+141del	ENSP00000465958.1:n.230+140_230+141del
NM_000151.3:c.230+140_230+141del	NP_000142.2:n.230+140_230+141del
NM_001270397.1:c.230+140_230+141del	NP_001257326.1:n.230+140_230+141del
NM_000151.4:c.230+140_230+141del MANE Select	NP_000142.2:n.230+140_230+141del
NM_001270397.2:c.230+140_230+141del	NP_001257326.1:n.230+140_230+141del