Canonical Allele Identifier: CA2260693003

Gene: G6PC1

Linked Data

• dbSNP Id: rs2056024432

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901263del , CM000679.2:g.42901263del	GRCh38
NC_000017.10:g.41053280del , CM000679.1:g.41053280del	GRCh37
NC_000017.9:g.38306806del	NCBI36
NG_011808.1:g.5466del , LRG_147:g.5466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.230+157del MANE Select	ENSP00000253801.1:n.230+157del
ENST00000253801.6:c.230+157del	ENSP00000253801.1:n.230+157del
ENST00000585489.1:c.230+157del	ENSP00000466202.1:n.230+157del
ENST00000588481.1:n.295+157del
ENST00000592383.5:c.230+157del	ENSP00000465958.1:n.230+157del
NM_000151.3:c.230+157del	NP_000142.2:n.230+157del
NM_001270397.1:c.230+157del	NP_001257326.1:n.230+157del
NM_000151.4:c.230+157del MANE Select	NP_000142.2:n.230+157del
NM_001270397.2:c.230+157del	NP_001257326.1:n.230+157del