Canonical Allele Identifier: CA590939266

Gene: FPGS

Linked Data

• dbSNP Id: rs1564448742
• gnomAD v2: 9-130575845-GGT-G
• gnomAD v3: 9-127813566-GGT-G
• gnomAD v4: 9-127813566-GGT-G
• MyVariant Identifiers: chr9:g.130575846_130575847del (hg19) ; chr9:g.127813567_127813568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813569_127813570del , CM000671.2:g.127813569_127813570del	GRCh38
NC_000009.11:g.130575848_130575849del , CM000671.1:g.130575848_130575849del	GRCh37
NC_000009.10:g.129615669_129615670del	NCBI36
NG_009551.1:g.46201_46202del , LRG_589:g.46201_46202del
NG_023245.1:g.15695_15696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1729_1730del MANE Select	ENSP00000362344.2:p.Val577ProfsTer?
ENST00000373225.7:c.1579_1580del	ENSP00000362322.3:p.Val527ProfsTer?
ENST00000373247.6:c.1729_1730del	ENSP00000362344.2:p.Val577ProfsTer?
ENST00000393706.6:c.1651_1652del	ENSP00000377309.2:p.Val551ProfsTer?
ENST00000460181.5:n.1717_1718del
ENST00000467826.5:n.709+246_709+247del
ENST00000475270.1:n.555_556del
ENST00000630236.2:c.*453_*454del	ENSP00000486766.1:n.*453_*454del
NM_001018078.2:c.1579_1580del	NP_001018088.1:p.Val527ProfsTer?
NM_001288803.1:c.1651_1652del	NP_001275732.1:p.Val551ProfsTer?
NM_004957.5:c.1729_1730del	NP_004948.4:p.Val577ProfsTer?
NR_110170.1:n.1777_1778del
XM_005251864.2:c.1483+246_1483+247del	XP_005251921.1:n.1483+246_1483+247del
XM_011518437.1:c.1579_1580del	XP_011516739.1:p.Val527ProfsTer?
XM_011518438.1:c.1579_1580del	XP_011516740.1:p.Val527ProfsTer?
XM_011518439.1:c.886_887del	XP_011516741.1:p.Val296ProfsTer?
XR_242581.2:n.1626_1627del
XR_242582.2:n.1380+246_1380+247del
XM_005251864.4:c.1483+246_1483+247del	XP_005251921.1:n.1483+246_1483+247del
XM_011518439.2:c.886_887del	XP_011516741.1:p.Val296ProfsTer?
XM_017014565.2:c.1333+246_1333+247del	XP_016870054.1:n.1333+246_1333+247del
XM_017014566.1:c.886_887del	XP_016870055.1:p.Val296ProfsTer?
XR_242581.4:n.1624_1625del
XR_242582.4:n.1378+246_1378+247del
NM_004957.6:c.1729_1730del MANE Select	NP_004948.4:p.Val577ProfsTer?