Canonical Allele Identifier: CA2695226173

Gene: G6PC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075682_44075686delinsT , CM000679.2:g.44075682_44075686delinsT	GRCh38
NC_000017.10:g.42153050_42153054delinsT , CM000679.1:g.42153050_42153054delinsT	GRCh37
NC_000017.9:g.39508576_39508580delinsT	NCBI36
NG_015818.1:g.9953_9957delinsT , LRG_182:g.9953_9957delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*517_*521delinsT	ENSP00000466983.1:n.*517_*521delinsT
ENST00000588558.6:c.*655_*659delinsT	ENSP00000467624.1:n.*655_*659delinsT
ENST00000590253.3:c.561_565delinsT	ENSP00000465111.2:p.His188SerfsTer?
ENST00000593115.2:c.*701_*705delinsT	ENSP00000466821.1:n.*701_*705delinsT
ENST00000696383.1:c.335_339delinsT	ENSP00000512593.1:p.Ser112LeufsTer3
ENST00000696384.1:c.*240_*244delinsT	ENSP00000512594.1:n.*240_*244delinsT
ENST00000696385.1:c.*398_*402delinsT	ENSP00000512595.1:n.*398_*402delinsT
ENST00000696386.1:c.363_367delinsT	ENSP00000512596.1:p.His122SerfsTer?
ENST00000696387.1:c.*307_*311delinsT	ENSP00000512597.1:n.*307_*311delinsT
ENST00000696388.1:c.*526_*530delinsT	ENSP00000512598.1:n.*526_*530delinsT
ENST00000696389.1:c.*711_*715delinsT	ENSP00000512599.1:n.*711_*715delinsT
ENST00000696390.1:c.470_474delinsT	ENSP00000512600.1:p.Ser157LeufsTer3
ENST00000696391.1:c.*536_*540delinsT	ENSP00000512601.1:n.*536_*540delinsT
ENST00000696392.1:c.680_684delinsT	ENSP00000512602.1:p.Ser227LeufsTer3
ENST00000696393.1:c.680_684delinsT	ENSP00000512603.1:p.Ser227LeufsTer3
ENST00000696405.1:c.677+231_677+235delinsT	ENSP00000512607.1:n.677+231_677+235delins...
ENST00000269097.9:c.680_684delinsT MANE Select	ENSP00000269097.3:p.Ser227LeufsTer3
ENST00000269097.8:c.680_684delinsT	ENSP00000269097.3:p.Ser227LeufsTer3
ENST00000585361.5:c.*517_*521delinsT	ENSP00000466983.1:n.*517_*521delinsT
ENST00000588558.5:c.*655_*659delinsT	ENSP00000467624.1:n.*655_*659delinsT
ENST00000590253.2:c.182_186delinsT
ENST00000590639.1:n.701_705delinsT
ENST00000591696.1:c.572_576delinsT	ENSP00000468677.1:p.Ser191LeufsTer3
NM_138387.3:c.680_684delinsT , LRG_182t1:c.680_684delinsT	NP_612396.1:p.Ser227LeufsTer3
NR_028581.1:n.1110_1114delinsT
NR_028582.1:n.975_979delinsT
XM_006722179.2:c.561_565delinsT	XP_006722242.1:p.His188SerfsTer?
XM_011525473.1:c.335_339delinsT	XP_011523775.1:p.Ser112LeufsTer3
XM_011525474.1:c.335_339delinsT	XP_011523776.1:p.Ser112LeufsTer3
NM_001319945.1:c.561_565delinsT	NP_001306874.1:p.His188SerfsTer?
XM_011525473.3:c.335_339delinsT	XP_011523775.1:p.Ser112LeufsTer3
XM_011525474.3:c.335_339delinsT	XP_011523776.1:p.Ser112LeufsTer3
XM_017025335.2:c.335_339delinsT	XP_016880824.1:p.Ser112LeufsTer3
NM_001319945.2:c.561_565delinsT	NP_001306874.1:p.His188SerfsTer?
NR_028581.2:n.929_933delinsT
NR_028582.2:n.794_798delinsT
NM_001384165.1:c.335_339delinsT	NP_001371094.1:p.Ser112LeufsTer3
NM_001384166.1:c.335_339delinsT	NP_001371095.1:p.Ser112LeufsTer3
NM_001384167.1:c.335_339delinsT	NP_001371096.1:p.Ser112LeufsTer3
NM_001384168.1:c.335_339delinsT	NP_001371097.1:p.Ser112LeufsTer3
NM_138387.4:c.680_684delinsT MANE Select	NP_612396.1:p.Ser227LeufsTer3