Canonical Allele Identifier: CA1879977249

Gene: FPGS

Linked Data

• dbSNP Id: rs1830178196

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813483dup , CM000671.2:g.127813483dup	GRCh38
NC_000009.11:g.130575762dup , CM000671.1:g.130575762dup	GRCh37
NC_000009.10:g.129615583dup	NCBI36
NG_009551.1:g.46288dup , LRG_589:g.46288dup
NG_023245.1:g.15609dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1643dup MANE Select	ENSP00000362344.2:p.Val549CysfsTer11
ENST00000373225.7:c.1493dup	ENSP00000362322.3:p.Val499CysfsTer11
ENST00000373247.6:c.1643dup	ENSP00000362344.2:p.Val549CysfsTer11
ENST00000393706.6:c.1565dup	ENSP00000377309.2:p.Val523CysfsTer11
ENST00000460181.5:n.1631dup
ENST00000467826.5:n.709+160dup
ENST00000475270.1:n.469dup
ENST00000630236.2:c.*367dup	ENSP00000486766.1:n.*367dup
NM_001018078.2:c.1493dup	NP_001018088.1:p.Val499CysfsTer11
NM_001288803.1:c.1565dup	NP_001275732.1:p.Val523CysfsTer11
NM_004957.5:c.1643dup	NP_004948.4:p.Val549CysfsTer11
NR_110170.1:n.1691dup
XM_005251864.2:c.1483+160dup	XP_005251921.1:n.1483+160dup
XM_011518437.1:c.1493dup	XP_011516739.1:p.Val499CysfsTer11
XM_011518438.1:c.1493dup	XP_011516740.1:p.Val499CysfsTer11
XM_011518439.1:c.800dup	XP_011516741.1:p.Val268CysfsTer11
XR_242581.2:n.1540dup
XR_242582.2:n.1380+160dup
XM_005251864.4:c.1483+160dup	XP_005251921.1:n.1483+160dup
XM_011518439.2:c.800dup	XP_011516741.1:p.Val268CysfsTer11
XM_017014565.2:c.1333+160dup	XP_016870054.1:n.1333+160dup
XM_017014566.1:c.800dup	XP_016870055.1:p.Val268CysfsTer11
XR_242581.4:n.1538dup
XR_242582.4:n.1378+160dup
NM_004957.6:c.1643dup MANE Select	NP_004948.4:p.Val549CysfsTer11