Canonical Allele Identifier: CA2838907094

Gene: G6PC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075777del , CM000679.2:g.44075777del	GRCh38
NC_000017.10:g.42153145del , CM000679.1:g.42153145del	GRCh37
NC_000017.9:g.39508671del	NCBI36
NG_015818.1:g.10048del , LRG_182:g.10048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*612del	ENSP00000466983.1:n.*612del
ENST00000588558.6:c.*750del	ENSP00000467624.1:n.*750del
ENST00000590253.3:c.*68del	ENSP00000465111.2:n.*68del
ENST00000593115.2:c.*796del	ENSP00000466821.1:n.*796del
ENST00000696383.1:c.430del	ENSP00000512593.1:p.Leu144TrpfsTer26
ENST00000696384.1:c.*335del	ENSP00000512594.1:n.*335del
ENST00000696385.1:c.*493del	ENSP00000512595.1:n.*493del
ENST00000696386.1:c.*68del	ENSP00000512596.1:n.*68del
ENST00000696387.1:c.*402del	ENSP00000512597.1:n.*402del
ENST00000696388.1:c.*621del	ENSP00000512598.1:n.*621del
ENST00000696389.1:c.*806del	ENSP00000512599.1:n.*806del
ENST00000696390.1:c.565del	ENSP00000512600.1:p.Leu189TrpfsTer26
ENST00000696391.1:c.*631del	ENSP00000512601.1:n.*631del
ENST00000696392.1:c.775del	ENSP00000512602.1:p.Leu259TrpfsTer?
ENST00000696393.1:c.775del	ENSP00000512603.1:p.Leu259TrpfsTer?
ENST00000696405.1:c.677+326del	ENSP00000512607.1:n.677+326del
ENST00000269097.9:c.775del MANE Select	ENSP00000269097.3:p.Leu259TrpfsTer26
ENST00000269097.8:c.775del	ENSP00000269097.3:p.Leu259TrpfsTer26
ENST00000585361.5:c.*612del	ENSP00000466983.1:n.*612del
ENST00000588558.5:c.*750del	ENSP00000467624.1:n.*750del
ENST00000590253.2:c.277del
ENST00000590639.1:n.796del
ENST00000591696.1:c.667del	ENSP00000468677.1:p.Leu223TrpfsTer?
NM_138387.3:c.775del , LRG_182t1:c.775del	NP_612396.1:p.Leu259TrpfsTer26
NR_028581.1:n.1205del
NR_028582.1:n.1070del
XM_011525473.1:c.430del	XP_011523775.1:p.Leu144TrpfsTer26
XM_011525474.1:c.430del	XP_011523776.1:p.Leu144TrpfsTer26
NM_001319945.1:c.*68del	NP_001306874.1:n.*68del
XM_011525473.3:c.430del	XP_011523775.1:p.Leu144TrpfsTer26
XM_011525474.3:c.430del	XP_011523776.1:p.Leu144TrpfsTer26
XM_017025335.2:c.430del	XP_016880824.1:p.Leu144TrpfsTer26
NM_001319945.2:c.*68del	NP_001306874.1:n.*68del
NR_028581.2:n.1024del
NR_028582.2:n.889del
NM_001384165.1:c.430del	NP_001371094.1:p.Leu144TrpfsTer26
NM_001384166.1:c.430del	NP_001371095.1:p.Leu144TrpfsTer26
NM_001384167.1:c.430del	NP_001371096.1:p.Leu144TrpfsTer26
NM_001384168.1:c.430del	NP_001371097.1:p.Leu144TrpfsTer26
NM_138387.4:c.775del MANE Select	NP_612396.1:p.Leu259TrpfsTer26