Canonical Allele Identifier: CA2840582359

Gene: G6PC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075787del , CM000679.2:g.44075787del	GRCh38
NC_000017.10:g.42153155del , CM000679.1:g.42153155del	GRCh37
NC_000017.9:g.39508681del	NCBI36
NG_015818.1:g.10058del , LRG_182:g.10058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*622del	ENSP00000466983.1:n.*622del
ENST00000588558.6:c.*760del	ENSP00000467624.1:n.*760del
ENST00000590253.3:c.*78del	ENSP00000465111.2:n.*78del
ENST00000593115.2:c.*806del	ENSP00000466821.1:n.*806del
ENST00000696383.1:c.440del	ENSP00000512593.1:p.Gly147AlafsTer23
ENST00000696384.1:c.*345del	ENSP00000512594.1:n.*345del
ENST00000696385.1:c.*503del	ENSP00000512595.1:n.*503del
ENST00000696386.1:c.*78del	ENSP00000512596.1:n.*78del
ENST00000696387.1:c.*412del	ENSP00000512597.1:n.*412del
ENST00000696388.1:c.*631del	ENSP00000512598.1:n.*631del
ENST00000696389.1:c.*816del	ENSP00000512599.1:n.*816del
ENST00000696390.1:c.575del	ENSP00000512600.1:p.Gly192AlafsTer23
ENST00000696391.1:c.*641del	ENSP00000512601.1:n.*641del
ENST00000696392.1:c.785del	ENSP00000512602.1:p.Gly262AlafsTer?
ENST00000696393.1:c.785del	ENSP00000512603.1:p.Gly262AlafsTer?
ENST00000696405.1:c.677+336del	ENSP00000512607.1:n.677+336del
ENST00000269097.9:c.785del MANE Select	ENSP00000269097.3:p.Gly262AlafsTer23
ENST00000269097.8:c.785del	ENSP00000269097.3:p.Gly262AlafsTer23
ENST00000585361.5:c.*622del	ENSP00000466983.1:n.*622del
ENST00000588558.5:c.*760del	ENSP00000467624.1:n.*760del
ENST00000590253.2:c.287del
ENST00000590639.1:n.806del
ENST00000591696.1:c.677del	ENSP00000468677.1:p.Gly226AlafsTer?
NM_138387.3:c.785del , LRG_182t1:c.785del	NP_612396.1:p.Gly262AlafsTer23
NR_028581.1:n.1215del
NR_028582.1:n.1080del
XM_011525473.1:c.440del	XP_011523775.1:p.Gly147AlafsTer23
XM_011525474.1:c.440del	XP_011523776.1:p.Gly147AlafsTer23
NM_001319945.1:c.*78del	NP_001306874.1:n.*78del
XM_011525473.3:c.440del	XP_011523775.1:p.Gly147AlafsTer23
XM_011525474.3:c.440del	XP_011523776.1:p.Gly147AlafsTer23
XM_017025335.2:c.440del	XP_016880824.1:p.Gly147AlafsTer23
NM_001319945.2:c.*78del	NP_001306874.1:n.*78del
NR_028581.2:n.1034del
NR_028582.2:n.899del
NM_001384165.1:c.440del	NP_001371094.1:p.Gly147AlafsTer23
NM_001384166.1:c.440del	NP_001371095.1:p.Gly147AlafsTer23
NM_001384167.1:c.440del	NP_001371096.1:p.Gly147AlafsTer23
NM_001384168.1:c.440del	NP_001371097.1:p.Gly147AlafsTer23
NM_138387.4:c.785del MANE Select	NP_612396.1:p.Gly262AlafsTer23