Canonical Allele Identifier: CA2261216673
Gene: G6PC3 HGNC NCBI

Linked Data

dbSNP Id: rs2050090806

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44075802_44075810dup , CM000679.2:g.44075802_44075810dup GRCh38
NC_000017.10:g.42153170_42153178dup , CM000679.1:g.42153170_42153178dup GRCh37
NC_000017.9:g.39508696_39508704dup NCBI36
NG_015818.1:g.10073_10081dup , LRG_182:g.10073_10081dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000585361.6:c.*637_*645dup ENSP00000466983.1:n.*637_*645dup
ENST00000588558.6:c.*775_*783dup ENSP00000467624.1:n.*775_*783dup
ENST00000590253.3:c.*93_*101dup ENSP00000465111.2:n.*93_*101dup
ENST00000593115.2:c.*821_*829dup ENSP00000466821.1:n.*821_*829dup
ENST00000696383.1:c.455_463dup ENSP00000512593.1:p.Cys154_Tyr155insSerProCys
ENST00000696384.1:c.*360_*368dup ENSP00000512594.1:n.*360_*368dup
ENST00000696385.1:c.*518_*526dup ENSP00000512595.1:n.*518_*526dup
ENST00000696386.1:c.*93_*101dup ENSP00000512596.1:n.*93_*101dup
ENST00000696387.1:c.*427_*435dup ENSP00000512597.1:n.*427_*435dup
ENST00000696388.1:c.*646_*654dup ENSP00000512598.1:n.*646_*654dup
ENST00000696389.1:c.*831_*839dup ENSP00000512599.1:n.*831_*839dup
ENST00000696390.1:c.590_598dup ENSP00000512600.1:p.Cys199_Tyr200insSerProCys
ENST00000696391.1:c.*656_*664dup ENSP00000512601.1:n.*656_*664dup
ENST00000696392.1:c.800_808dup ENSP00000512602.1:p.Cys269_Tyr270insSerProCys
ENST00000696393.1:c.800_808dup ENSP00000512603.1:p.Cys269_Tyr270insSerProCys
ENST00000696405.1:c.677+351_677+359dup ENSP00000512607.1:n.677+351_677+359dup
ENST00000269097.9:c.800_808dup MANE Select ENSP00000269097.3:p.Cys269_Tyr270insSerProCys
ENST00000269097.8:c.800_808dup ENSP00000269097.3:p.Cys269_Tyr270insSerProCys
ENST00000585361.5:c.*637_*645dup ENSP00000466983.1:n.*637_*645dup
ENST00000588558.5:c.*775_*783dup ENSP00000467624.1:n.*775_*783dup
ENST00000590253.2:c.302_310dup
ENST00000590639.1:n.821_829dup
ENST00000591696.1:c.692_700dup ENSP00000468677.1:p.Cys233_Tyr234insSerProCys
NM_138387.3:c.800_808dup , LRG_182t1:c.800_808dup NP_612396.1:p.Cys269_Tyr270insSerProCys
NR_028581.1:n.1230_1238dup
NR_028582.1:n.1095_1103dup
XM_011525473.1:c.455_463dup XP_011523775.1:p.Cys154_Tyr155insSerProCys
XM_011525474.1:c.455_463dup XP_011523776.1:p.Cys154_Tyr155insSerProCys
NM_001319945.1:c.*93_*101dup NP_001306874.1:n.*93_*101dup
XM_011525473.3:c.455_463dup XP_011523775.1:p.Cys154_Tyr155insSerProCys
XM_011525474.3:c.455_463dup XP_011523776.1:p.Cys154_Tyr155insSerProCys
XM_017025335.2:c.455_463dup XP_016880824.1:p.Cys154_Tyr155insSerProCys
NM_001319945.2:c.*93_*101dup NP_001306874.1:n.*93_*101dup
NR_028581.2:n.1049_1057dup
NR_028582.2:n.914_922dup
NM_001384165.1:c.455_463dup NP_001371094.1:p.Cys154_Tyr155insSerProCys
NM_001384166.1:c.455_463dup NP_001371095.1:p.Cys154_Tyr155insSerProCys
NM_001384167.1:c.455_463dup NP_001371096.1:p.Cys154_Tyr155insSerProCys
NM_001384168.1:c.455_463dup NP_001371097.1:p.Cys154_Tyr155insSerProCys
NM_138387.4:c.800_808dup MANE Select NP_612396.1:p.Cys269_Tyr270insSerProCys