Canonical Allele Identifier: CA2839586152

Gene: G6PC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075846del , CM000679.2:g.44075846del	GRCh38
NC_000017.10:g.42153214del , CM000679.1:g.42153214del	GRCh37
NC_000017.9:g.39508740del	NCBI36
NG_015818.1:g.10117del , LRG_182:g.10117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*681del	ENSP00000466983.1:n.*681del
ENST00000588558.6:c.*819del	ENSP00000467624.1:n.*819del
ENST00000590253.3:c.*137del	ENSP00000465111.2:n.*137del
ENST00000593115.2:c.*865del	ENSP00000466821.1:n.*865del
ENST00000696383.1:c.499del	ENSP00000512593.1:p.Gln167ArgfsTer3
ENST00000696384.1:c.*404del	ENSP00000512594.1:n.*404del
ENST00000696385.1:c.*562del	ENSP00000512595.1:n.*562del
ENST00000696386.1:c.*137del	ENSP00000512596.1:n.*137del
ENST00000696387.1:c.*471del	ENSP00000512597.1:n.*471del
ENST00000696388.1:c.*690del	ENSP00000512598.1:n.*690del
ENST00000696389.1:c.*875del	ENSP00000512599.1:n.*875del
ENST00000696390.1:c.634del	ENSP00000512600.1:p.Gln212ArgfsTer3
ENST00000696391.1:c.*700del	ENSP00000512601.1:n.*700del
ENST00000696392.1:c.816+28del	ENSP00000512602.1:n.816+28del
ENST00000696393.1:c.816+28del	ENSP00000512603.1:n.816+28del
ENST00000696405.1:c.677+395del	ENSP00000512607.1:n.677+395del
ENST00000269097.9:c.844del MANE Select	ENSP00000269097.3:p.Gln282ArgfsTer3
ENST00000269097.8:c.844del	ENSP00000269097.3:p.Gln282ArgfsTer3
ENST00000585361.5:c.*681del	ENSP00000466983.1:n.*681del
ENST00000588558.5:c.*819del	ENSP00000467624.1:n.*819del
ENST00000590253.2:c.346del
NM_138387.3:c.844del , LRG_182t1:c.844del	NP_612396.1:p.Gln282ArgfsTer3
NR_028581.1:n.1274del
NR_028582.1:n.1139del
XM_011525473.1:c.499del	XP_011523775.1:p.Gln167ArgfsTer3
XM_011525474.1:c.499del	XP_011523776.1:p.Gln167ArgfsTer3
NM_001319945.1:c.*137del	NP_001306874.1:n.*137del
XM_011525473.3:c.499del	XP_011523775.1:p.Gln167ArgfsTer3
XM_011525474.3:c.499del	XP_011523776.1:p.Gln167ArgfsTer3
XM_017025335.2:c.499del	XP_016880824.1:p.Gln167ArgfsTer3
NM_001319945.2:c.*137del	NP_001306874.1:n.*137del
NR_028581.2:n.1093del
NR_028582.2:n.958del
NM_001384165.1:c.499del	NP_001371094.1:p.Gln167ArgfsTer3
NM_001384166.1:c.499del	NP_001371095.1:p.Gln167ArgfsTer3
NM_001384167.1:c.499del	NP_001371096.1:p.Gln167ArgfsTer3
NM_001384168.1:c.499del	NP_001371097.1:p.Gln167ArgfsTer3
NM_138387.4:c.844del MANE Select	NP_612396.1:p.Gln282ArgfsTer3