Canonical Allele Identifier: CA1879976903

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813343_127813346delinsTCTG , CM000671.2:g.127813343_127813346delinsTCTG	GRCh38
NC_000009.11:g.130575622_130575625delinsTCTG , CM000671.1:g.130575622_130575625delinsTCTG	GRCh37
NC_000009.10:g.129615443_129615446delinsTCTG	NCBI36
NG_009551.1:g.46423_46426delinsCAGA , LRG_589:g.46423_46426delinsCAGA
NG_023245.1:g.15469_15472delinsTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1503_1506delinsTCTG MANE Select	ENSP00000362344.2:p.Leu501=
ENST00000373225.7:c.1353_1356delinsTCTG	ENSP00000362322.3:p.Leu451=
ENST00000373228.5:c.*160_*163delinsTCTG	ENSP00000362325.1:n.*160_*163delinsTCTG
ENST00000373247.6:c.1503_1506delinsTCTG	ENSP00000362344.2:p.Leu501=
ENST00000393706.6:c.1425_1428delinsTCTG	ENSP00000377309.2:p.Leu475=
ENST00000460181.5:n.1491_1494delinsTCTG
ENST00000467826.5:n.709+20_709+23delinsTCTG
ENST00000475270.1:n.329_332delinsTCTG
ENST00000630236.2:c.*227_*230delinsTCTG	ENSP00000486766.1:n.*227_*230delinsTCTG
NM_001018078.2:c.1353_1356delinsTCTG	NP_001018088.1:p.Leu451=
NM_001288803.1:c.1425_1428delinsTCTG	NP_001275732.1:p.Leu475=
NM_004957.5:c.1503_1506delinsTCTG	NP_004948.4:p.Leu501=
NR_110170.1:n.1551_1554delinsTCTG
XM_005251864.2:c.1483+20_1483+23delinsTCTG	XP_005251921.1:n.1483+20_1483+23delinsTCTG
XM_011518437.1:c.1353_1356delinsTCTG	XP_011516739.1:p.Leu451=
XM_011518438.1:c.1353_1356delinsTCTG	XP_011516740.1:p.Leu451=
XM_011518439.1:c.660_663delinsTCTG	XP_011516741.1:p.Leu220=
XR_242581.2:n.1400_1403delinsTCTG
XR_242582.2:n.1380+20_1380+23delinsTCTG
XM_005251864.4:c.1483+20_1483+23delinsTCTG	XP_005251921.1:n.1483+20_1483+23delinsTCTG
XM_011518439.2:c.660_663delinsTCTG	XP_011516741.1:p.Leu220=
XM_017014565.2:c.1333+20_1333+23delinsTCTG	XP_016870054.1:n.1333+20_1333+23delinsTCTG
XM_017014566.1:c.660_663delinsTCTG	XP_016870055.1:p.Leu220=
XR_242581.4:n.1398_1401delinsTCTG
XR_242582.4:n.1378+20_1378+23delinsTCTG
NM_004957.6:c.1503_1506delinsTCTG MANE Select	NP_004948.4:p.Leu501=