Canonical Allele Identifier: CA2691803875

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813341-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813343del , CM000671.2:g.127813343del	GRCh38
NC_000009.11:g.130575622del , CM000671.1:g.130575622del	GRCh37
NC_000009.10:g.129615443del	NCBI36
NG_009551.1:g.46427del , LRG_589:g.46427del
NG_023245.1:g.15469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1503del MANE Select	ENSP00000362344.2:p.Leu502TrpfsTer?
ENST00000373225.7:c.1353del	ENSP00000362322.3:p.Leu452TrpfsTer?
ENST00000373228.5:c.*160del	ENSP00000362325.1:n.*160del
ENST00000373247.6:c.1503del	ENSP00000362344.2:p.Leu502TrpfsTer?
ENST00000393706.6:c.1425del	ENSP00000377309.2:p.Leu476TrpfsTer?
ENST00000460181.5:n.1491del
ENST00000467826.5:n.709+20del
ENST00000475270.1:n.329del
ENST00000630236.2:c.*227del	ENSP00000486766.1:n.*227del
NM_001018078.2:c.1353del	NP_001018088.1:p.Leu452TrpfsTer?
NM_001288803.1:c.1425del	NP_001275732.1:p.Leu476TrpfsTer?
NM_004957.5:c.1503del	NP_004948.4:p.Leu502TrpfsTer?
NR_110170.1:n.1551del
XM_005251864.2:c.1483+20del	XP_005251921.1:n.1483+20del
XM_011518437.1:c.1353del	XP_011516739.1:p.Leu452TrpfsTer?
XM_011518438.1:c.1353del	XP_011516740.1:p.Leu452TrpfsTer?
XM_011518439.1:c.660del	XP_011516741.1:p.Leu221TrpfsTer?
XR_242581.2:n.1400del
XR_242582.2:n.1380+20del
XM_005251864.4:c.1483+20del	XP_005251921.1:n.1483+20del
XM_011518439.2:c.660del	XP_011516741.1:p.Leu221TrpfsTer?
XM_017014565.2:c.1333+20del	XP_016870054.1:n.1333+20del
XM_017014566.1:c.660del	XP_016870055.1:p.Leu221TrpfsTer?
XR_242581.4:n.1398del
XR_242582.4:n.1378+20del
NM_004957.6:c.1503del MANE Select	NP_004948.4:p.Leu502TrpfsTer?