Canonical Allele Identifier: CA2533432867

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813358_127813359insG , CM000671.2:g.127813358_127813359insG	GRCh38
NC_000009.11:g.130575637_130575638insG , CM000671.1:g.130575637_130575638insG	GRCh37
NC_000009.10:g.129615458_129615459insG	NCBI36
NG_009551.1:g.46410_46411insC , LRG_589:g.46410_46411insC
NG_023245.1:g.15484_15485insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1518_1519insG MANE Select	ENSP00000362344.2:p.Pro507AlafsTer?
ENST00000373225.7:c.1368_1369insG	ENSP00000362322.3:p.Pro457AlafsTer?
ENST00000373228.5:c.*175_*176insG	ENSP00000362325.1:n.*175_*176insG
ENST00000373247.6:c.1518_1519insG	ENSP00000362344.2:p.Pro507AlafsTer?
ENST00000393706.6:c.1440_1441insG	ENSP00000377309.2:p.Pro481AlafsTer?
ENST00000460181.5:n.1506_1507insG
ENST00000467826.5:n.709+35_709+36insG
ENST00000475270.1:n.344_345insG
ENST00000630236.2:c.*242_*243insG	ENSP00000486766.1:n.*242_*243insG
NM_001018078.2:c.1368_1369insG	NP_001018088.1:p.Pro457AlafsTer?
NM_001288803.1:c.1440_1441insG	NP_001275732.1:p.Pro481AlafsTer?
NM_004957.5:c.1518_1519insG	NP_004948.4:p.Pro507AlafsTer?
NR_110170.1:n.1566_1567insG
XM_005251864.2:c.1483+35_1483+36insG	XP_005251921.1:n.1483+35_1483+36insG
XM_011518437.1:c.1368_1369insG	XP_011516739.1:p.Pro457AlafsTer?
XM_011518438.1:c.1368_1369insG	XP_011516740.1:p.Pro457AlafsTer?
XM_011518439.1:c.675_676insG	XP_011516741.1:p.Pro226AlafsTer?
XR_242581.2:n.1415_1416insG
XR_242582.2:n.1380+35_1380+36insG
XM_005251864.4:c.1483+35_1483+36insG	XP_005251921.1:n.1483+35_1483+36insG
XM_011518439.2:c.675_676insG	XP_011516741.1:p.Pro226AlafsTer?
XM_017014565.2:c.1333+35_1333+36insG	XP_016870054.1:n.1333+35_1333+36insG
XM_017014566.1:c.675_676insG	XP_016870055.1:p.Pro226AlafsTer?
XR_242581.4:n.1413_1414insG
XR_242582.4:n.1378+35_1378+36insG
NM_004957.6:c.1518_1519insG MANE Select	NP_004948.4:p.Pro507AlafsTer?