Canonical Allele Identifier: CA645553522

Gene: FPGS

Linked Data

• COSMIC: COSM4516190

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813511_127813512delinsTT , CM000671.2:g.127813511_127813512delinsTT	GRCh38
NC_000009.11:g.130575790_130575791delinsTT , CM000671.1:g.130575790_130575791delinsTT	GRCh37
NC_000009.10:g.129615611_129615612delinsTT	NCBI36
NG_009551.1:g.46257_46258delinsAA , LRG_589:g.46257_46258delinsAA
NG_023245.1:g.15637_15638delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1671_1672delinsTT MANE Select	ENSP00000362344.2:p.Arg558Cys
ENST00000373225.7:c.1521_1522delinsTT	ENSP00000362322.3:p.Arg508Cys
ENST00000373247.6:c.1671_1672delinsTT	ENSP00000362344.2:p.Arg558Cys
ENST00000393706.6:c.1593_1594delinsTT	ENSP00000377309.2:p.Arg532Cys
ENST00000460181.5:n.1659_1660delinsTT
ENST00000467826.5:n.709+188_709+189delinsTT
ENST00000475270.1:n.497_498delinsTT
ENST00000630236.2:c.*395_*396delinsTT	ENSP00000486766.1:n.*395_*396delinsTT
NM_001018078.2:c.1521_1522delinsTT	NP_001018088.1:p.Arg508Cys
NM_001288803.1:c.1593_1594delinsTT	NP_001275732.1:p.Arg532Cys
NM_004957.5:c.1671_1672delinsTT	NP_004948.4:p.Arg558Cys
NR_110170.1:n.1719_1720delinsTT
XM_005251864.2:c.1483+188_1483+189delinsTT	XP_005251921.1:n.1483+188_1483+189delinsTT
XM_011518437.1:c.1521_1522delinsTT	XP_011516739.1:p.Arg508Cys
XM_011518438.1:c.1521_1522delinsTT	XP_011516740.1:p.Arg508Cys
XM_011518439.1:c.828_829delinsTT	XP_011516741.1:p.Arg277Cys
XR_242581.2:n.1568_1569delinsTT
XR_242582.2:n.1380+188_1380+189delinsTT
XM_005251864.4:c.1483+188_1483+189delinsTT	XP_005251921.1:n.1483+188_1483+189delinsTT
XM_011518439.2:c.828_829delinsTT	XP_011516741.1:p.Arg277Cys
XM_017014565.2:c.1333+188_1333+189delinsTT	XP_016870054.1:n.1333+188_1333+189delinsTT
XM_017014566.1:c.828_829delinsTT	XP_016870055.1:p.Arg277Cys
XR_242581.4:n.1566_1567delinsTT
XR_242582.4:n.1378+188_1378+189delinsTT
NM_004957.6:c.1671_1672delinsTT MANE Select	NP_004948.4:p.Arg558Cys