Canonical Allele Identifier: CA2579461133

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813328-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813329del , CM000671.2:g.127813329del	GRCh38
NC_000009.11:g.130575608del , CM000671.1:g.130575608del	GRCh37
NC_000009.10:g.129615429del	NCBI36
NG_009551.1:g.46440del , LRG_589:g.46440del
NG_023245.1:g.15455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1489del MANE Select	ENSP00000362344.2:p.Ser497ProfsTer?
ENST00000373225.7:c.1339del	ENSP00000362322.3:p.Ser447ProfsTer?
ENST00000373228.5:c.*146del	ENSP00000362325.1:n.*146del
ENST00000373247.6:c.1489del	ENSP00000362344.2:p.Ser497ProfsTer?
ENST00000393706.6:c.1411del	ENSP00000377309.2:p.Ser471ProfsTer?
ENST00000460181.5:n.1477del
ENST00000467826.5:n.709+6del
ENST00000475270.1:n.315del
ENST00000630236.2:c.*213del	ENSP00000486766.1:n.*213del
NM_001018078.2:c.1339del	NP_001018088.1:p.Ser447ProfsTer?
NM_001288803.1:c.1411del	NP_001275732.1:p.Ser471ProfsTer?
NM_004957.5:c.1489del	NP_004948.4:p.Ser497ProfsTer?
NR_110170.1:n.1537del
XM_005251864.2:c.1483+6del	XP_005251921.1:n.1483+6del
XM_011518437.1:c.1339del	XP_011516739.1:p.Ser447ProfsTer?
XM_011518438.1:c.1339del	XP_011516740.1:p.Ser447ProfsTer?
XM_011518439.1:c.646del	XP_011516741.1:p.Ser216ProfsTer?
XR_242581.2:n.1386del
XR_242582.2:n.1380+6del
XM_005251864.4:c.1483+6del	XP_005251921.1:n.1483+6del
XM_011518439.2:c.646del	XP_011516741.1:p.Ser216ProfsTer?
XM_017014565.2:c.1333+6del	XP_016870054.1:n.1333+6del
XM_017014566.1:c.646del	XP_016870055.1:p.Ser216ProfsTer?
XR_242581.4:n.1384del
XR_242582.4:n.1378+6del
NM_004957.6:c.1489del MANE Select	NP_004948.4:p.Ser497ProfsTer?