Canonical Allele Identifier: CA1879976882

Gene: FPGS

Linked Data

• dbSNP Id: rs1830167660

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813338dup , CM000671.2:g.127813338dup	GRCh38
NC_000009.11:g.130575617dup , CM000671.1:g.130575617dup	GRCh37
NC_000009.10:g.129615438dup	NCBI36
NG_009551.1:g.46433dup , LRG_589:g.46433dup
NG_023245.1:g.15464dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1498dup MANE Select	ENSP00000362344.2:p.Leu500ProfsTer?
ENST00000373225.7:c.1348dup	ENSP00000362322.3:p.Leu450ProfsTer?
ENST00000373228.5:c.*155dup	ENSP00000362325.1:n.*155dup
ENST00000373247.6:c.1498dup	ENSP00000362344.2:p.Leu500ProfsTer?
ENST00000393706.6:c.1420dup	ENSP00000377309.2:p.Leu474ProfsTer?
ENST00000460181.5:n.1486dup
ENST00000467826.5:n.709+15dup
ENST00000475270.1:n.324dup
ENST00000630236.2:c.*222dup	ENSP00000486766.1:n.*222dup
NM_001018078.2:c.1348dup	NP_001018088.1:p.Leu450ProfsTer?
NM_001288803.1:c.1420dup	NP_001275732.1:p.Leu474ProfsTer?
NM_004957.5:c.1498dup	NP_004948.4:p.Leu500ProfsTer?
NR_110170.1:n.1546dup
XM_005251864.2:c.1483+15dup	XP_005251921.1:n.1483+15dup
XM_011518437.1:c.1348dup	XP_011516739.1:p.Leu450ProfsTer?
XM_011518438.1:c.1348dup	XP_011516740.1:p.Leu450ProfsTer?
XM_011518439.1:c.655dup	XP_011516741.1:p.Leu219ProfsTer?
XR_242581.2:n.1395dup
XR_242582.2:n.1380+15dup
XM_005251864.4:c.1483+15dup	XP_005251921.1:n.1483+15dup
XM_011518439.2:c.655dup	XP_011516741.1:p.Leu219ProfsTer?
XM_017014565.2:c.1333+15dup	XP_016870054.1:n.1333+15dup
XM_017014566.1:c.655dup	XP_016870055.1:p.Leu219ProfsTer?
XR_242581.4:n.1393dup
XR_242582.4:n.1378+15dup
NM_004957.6:c.1498dup MANE Select	NP_004948.4:p.Leu500ProfsTer?