Canonical Allele Identifier: CA1139665634

Gene: G6PC3

Linked Data

• ClinVar Variation Id: 987353
• ClinVar RCV Id: RCV001268693
• dbSNP Id: rs2050087074

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075686del , CM000679.2:g.44075686del	GRCh38
NC_000017.10:g.42153054del , CM000679.1:g.42153054del	GRCh37
NC_000017.9:g.39508580del	NCBI36
NG_015818.1:g.9957del , LRG_182:g.9957del

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*521del	ENSP00000466983.1:n.*521del
ENST00000588558.6:c.*659del	ENSP00000467624.1:n.*659del
ENST00000590253.3:c.565del	ENSP00000465111.2:p.Gln189SerfsTer?
ENST00000593115.2:c.*705del	ENSP00000466821.1:n.*705del
ENST00000696383.1:c.339del	ENSP00000512593.1:p.Ser114AlafsTer2
ENST00000696384.1:c.*244del	ENSP00000512594.1:n.*244del
ENST00000696385.1:c.*402del	ENSP00000512595.1:n.*402del
ENST00000696386.1:c.367del	ENSP00000512596.1:p.Gln123SerfsTer?
ENST00000696387.1:c.*311del	ENSP00000512597.1:n.*311del
ENST00000696388.1:c.*530del	ENSP00000512598.1:n.*530del
ENST00000696389.1:c.*715del	ENSP00000512599.1:n.*715del
ENST00000696390.1:c.474del	ENSP00000512600.1:p.Ser159AlafsTer2
ENST00000696391.1:c.*540del	ENSP00000512601.1:n.*540del
ENST00000696392.1:c.684del	ENSP00000512602.1:p.Ser229AlafsTer2
ENST00000696393.1:c.684del	ENSP00000512603.1:p.Ser229AlafsTer2
ENST00000696405.1:c.677+235del	ENSP00000512607.1:n.677+235del
ENST00000269097.9:c.684del MANE Select	ENSP00000269097.3:p.Ser229AlafsTer2
ENST00000269097.8:c.684del	ENSP00000269097.3:p.Ser229AlafsTer2
ENST00000585361.5:c.*521del	ENSP00000466983.1:n.*521del
ENST00000588558.5:c.*659del	ENSP00000467624.1:n.*659del
ENST00000590253.2:c.186del
ENST00000590639.1:n.705del
ENST00000591696.1:c.576del	ENSP00000468677.1:p.Ser193AlafsTer2
NM_138387.3:c.684del , LRG_182t1:c.684del	NP_612396.1:p.Ser229AlafsTer2
NR_028581.1:n.1114del
NR_028582.1:n.979del
XM_006722179.2:c.565del	XP_006722242.1:p.Gln189SerfsTer?
XM_011525473.1:c.339del	XP_011523775.1:p.Ser114AlafsTer2
XM_011525474.1:c.339del	XP_011523776.1:p.Ser114AlafsTer2
NM_001319945.1:c.565del	NP_001306874.1:p.Gln189SerfsTer?
XM_011525473.3:c.339del	XP_011523775.1:p.Ser114AlafsTer2
XM_011525474.3:c.339del	XP_011523776.1:p.Ser114AlafsTer2
XM_017025335.2:c.339del	XP_016880824.1:p.Ser114AlafsTer2
NM_001319945.2:c.565del	NP_001306874.1:p.Gln189SerfsTer?
NR_028581.2:n.933del
NR_028582.2:n.798del
NM_001384165.1:c.339del	NP_001371094.1:p.Ser114AlafsTer2
NM_001384166.1:c.339del	NP_001371095.1:p.Ser114AlafsTer2
NM_001384167.1:c.339del	NP_001371096.1:p.Ser114AlafsTer2
NM_001384168.1:c.339del	NP_001371097.1:p.Ser114AlafsTer2
NM_138387.4:c.684del MANE Select	NP_612396.1:p.Ser229AlafsTer2