Canonical Allele Identifier: CA590939264

Gene: FPGS

Linked Data

• dbSNP Id: rs1564448404
• gnomAD v2: 9-130575622-T-TCTGG
• gnomAD v3: 9-127813343-T-TCTGG
• gnomAD v4: 9-127813343-T-TCTGG
• MyVariant Identifiers: chr9:g.130575625_130575626insGCTG (hg19) ; chr9:g.130575622_130575623insCTGG (hg19) ; chr9:g.127813346_127813347insGCTG (hg38) ; chr9:g.127813343_127813344insCTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813345_127813348dup , CM000671.2:g.127813345_127813348dup	GRCh38
NC_000009.11:g.130575624_130575627dup , CM000671.1:g.130575624_130575627dup	GRCh37
NC_000009.10:g.129615445_129615448dup	NCBI36
NG_009551.1:g.46422_46425dup , LRG_589:g.46422_46425dup
NG_023245.1:g.15471_15474dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1505_1508dup MANE Select	ENSP00000362344.2:p.Pro504GlyfsTer?
ENST00000373225.7:c.1355_1358dup	ENSP00000362322.3:p.Pro454GlyfsTer?
ENST00000373228.5:c.*162_*165dup	ENSP00000362325.1:n.*162_*165dup
ENST00000373247.6:c.1505_1508dup	ENSP00000362344.2:p.Pro504GlyfsTer?
ENST00000393706.6:c.1427_1430dup	ENSP00000377309.2:p.Pro478GlyfsTer?
ENST00000460181.5:n.1493_1496dup
ENST00000467826.5:n.709+22_709+25dup
ENST00000475270.1:n.331_334dup
ENST00000630236.2:c.*229_*232dup	ENSP00000486766.1:n.*229_*232dup
NM_001018078.2:c.1355_1358dup	NP_001018088.1:p.Pro454GlyfsTer?
NM_001288803.1:c.1427_1430dup	NP_001275732.1:p.Pro478GlyfsTer?
NM_004957.5:c.1505_1508dup	NP_004948.4:p.Pro504GlyfsTer?
NR_110170.1:n.1553_1556dup
XM_005251864.2:c.1483+22_1483+25dup	XP_005251921.1:n.1483+22_1483+25dup
XM_011518437.1:c.1355_1358dup	XP_011516739.1:p.Pro454GlyfsTer?
XM_011518438.1:c.1355_1358dup	XP_011516740.1:p.Pro454GlyfsTer?
XM_011518439.1:c.662_665dup	XP_011516741.1:p.Pro223GlyfsTer?
XR_242581.2:n.1402_1405dup
XR_242582.2:n.1380+22_1380+25dup
XM_005251864.4:c.1483+22_1483+25dup	XP_005251921.1:n.1483+22_1483+25dup
XM_011518439.2:c.662_665dup	XP_011516741.1:p.Pro223GlyfsTer?
XM_017014565.2:c.1333+22_1333+25dup	XP_016870054.1:n.1333+22_1333+25dup
XM_017014566.1:c.662_665dup	XP_016870055.1:p.Pro223GlyfsTer?
XR_242581.4:n.1400_1403dup
XR_242582.4:n.1378+22_1378+25dup
NM_004957.6:c.1505_1508dup MANE Select	NP_004948.4:p.Pro504GlyfsTer?