Canonical Allele Identifier: CA1879976938

Gene: FPGS

Linked Data

• dbSNP Id: rs1830169087

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813358_127813361dup , CM000671.2:g.127813358_127813361dup	GRCh38
NC_000009.11:g.130575637_130575640dup , CM000671.1:g.130575637_130575640dup	GRCh37
NC_000009.10:g.129615458_129615461dup	NCBI36
NG_009551.1:g.46415_46418dup , LRG_589:g.46415_46418dup
NG_023245.1:g.15484_15487dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1518_1521dup MANE Select	ENSP00000362344.2:p.His508ThrfsTer?
ENST00000373225.7:c.1368_1371dup	ENSP00000362322.3:p.His458ThrfsTer?
ENST00000373228.5:c.*175_*178dup	ENSP00000362325.1:n.*175_*178dup
ENST00000373247.6:c.1518_1521dup	ENSP00000362344.2:p.His508ThrfsTer?
ENST00000393706.6:c.1440_1443dup	ENSP00000377309.2:p.His482ThrfsTer?
ENST00000460181.5:n.1506_1509dup
ENST00000467826.5:n.709+35_709+38dup
ENST00000475270.1:n.344_347dup
ENST00000630236.2:c.*242_*245dup	ENSP00000486766.1:n.*242_*245dup
NM_001018078.2:c.1368_1371dup	NP_001018088.1:p.His458ThrfsTer?
NM_001288803.1:c.1440_1443dup	NP_001275732.1:p.His482ThrfsTer?
NM_004957.5:c.1518_1521dup	NP_004948.4:p.His508ThrfsTer?
NR_110170.1:n.1566_1569dup
XM_005251864.2:c.1483+35_1483+38dup	XP_005251921.1:n.1483+35_1483+38dup
XM_011518437.1:c.1368_1371dup	XP_011516739.1:p.His458ThrfsTer?
XM_011518438.1:c.1368_1371dup	XP_011516740.1:p.His458ThrfsTer?
XM_011518439.1:c.675_678dup	XP_011516741.1:p.His227ThrfsTer?
XR_242581.2:n.1415_1418dup
XR_242582.2:n.1380+35_1380+38dup
XM_005251864.4:c.1483+35_1483+38dup	XP_005251921.1:n.1483+35_1483+38dup
XM_011518439.2:c.675_678dup	XP_011516741.1:p.His227ThrfsTer?
XM_017014565.2:c.1333+35_1333+38dup	XP_016870054.1:n.1333+35_1333+38dup
XM_017014566.1:c.675_678dup	XP_016870055.1:p.His227ThrfsTer?
XR_242581.4:n.1413_1416dup
XR_242582.4:n.1378+35_1378+38dup
NM_004957.6:c.1518_1521dup MANE Select	NP_004948.4:p.His508ThrfsTer?