Canonical Allele Identifier: CA1879976848

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813324_127813333delinsGTGGGTCCGC , CM000671.2:g.127813324_127813333delinsGTGGGTCCGC	GRCh38
NC_000009.11:g.130575603_130575612delinsGTGGGTCCGC , CM000671.1:g.130575603_130575612delinsGTGGGTCCGC	GRCh37
NC_000009.10:g.129615424_129615433delinsGTGGGTCCGC	NCBI36
NG_009551.1:g.46436_46445delinsGCGGACCCAC , LRG_589:g.46436_46445delinsGCGGACCCAC
NG_023245.1:g.15450_15459delinsGTGGGTCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1484_1493delinsGTGGGTCCGC MANE Select	ENSP00000362344.2:p.Gly495=
ENST00000373225.7:c.1334_1343delinsGTGGGTCCGC	ENSP00000362322.3:p.Gly445=
ENST00000373228.5:c.*141_*150delinsGTGGGTCCGC	ENSP00000362325.1:n.*141_*150delinsGTGGGTCCGC
ENST00000373247.6:c.1484_1493delinsGTGGGTCCGC	ENSP00000362344.2:p.Gly495=
ENST00000393706.6:c.1406_1415delinsGTGGGTCCGC	ENSP00000377309.2:p.Gly469=
ENST00000460181.5:n.1472_1481delinsGTGGGTCCGC
ENST00000467826.5:n.709+1_709+10delinsGTGGGTCCGC
ENST00000475270.1:n.310_319delinsGTGGGTCCGC
ENST00000630236.2:c.*208_*217delinsGTGGGTCCGC	ENSP00000486766.1:n.*208_*217delinsGTGGGTCCGC
NM_001018078.2:c.1334_1343delinsGTGGGTCCGC	NP_001018088.1:p.Gly445=
NM_001288803.1:c.1406_1415delinsGTGGGTCCGC	NP_001275732.1:p.Gly469=
NM_004957.5:c.1484_1493delinsGTGGGTCCGC	NP_004948.4:p.Gly495=
NR_110170.1:n.1532_1541delinsGTGGGTCCGC
XM_005251864.2:c.1483+1_1483+10delinsGTGGGTCCGC	XP_005251921.1:n.1483+1_1483+10delinsGTGGGTCCGC
XM_011518437.1:c.1334_1343delinsGTGGGTCCGC	XP_011516739.1:p.Gly445=
XM_011518438.1:c.1334_1343delinsGTGGGTCCGC	XP_011516740.1:p.Gly445=
XM_011518439.1:c.641_650delinsGTGGGTCCGC	XP_011516741.1:p.Gly214=
XR_242581.2:n.1381_1390delinsGTGGGTCCGC
XR_242582.2:n.1380+1_1380+10delinsGTGGGTCCGC
XM_005251864.4:c.1483+1_1483+10delinsGTGGGTCCGC	XP_005251921.1:n.1483+1_1483+10delinsGTGGGTCCGC
XM_011518439.2:c.641_650delinsGTGGGTCCGC	XP_011516741.1:p.Gly214=
XM_017014565.2:c.1333+1_1333+10delinsGTGGGTCCGC	XP_016870054.1:n.1333+1_1333+10delinsGTGGGTCCGC
XM_017014566.1:c.641_650delinsGTGGGTCCGC	XP_016870055.1:p.Gly214=
XR_242581.4:n.1379_1388delinsGTGGGTCCGC
XR_242582.4:n.1378+1_1378+10delinsGTGGGTCCGC
NM_004957.6:c.1484_1493delinsGTGGGTCCGC MANE Select	NP_004948.4:p.Gly495=