Canonical Allele Identifier: CA658653597

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813362dup , CM000671.2:g.127813362dup	GRCh38
NC_000009.11:g.130575641dup , CM000671.1:g.130575641dup	GRCh37
NC_000009.10:g.129615462dup	NCBI36
NG_009551.1:g.46410dup , LRG_589:g.46410dup
NG_023245.1:g.15488dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1522dup MANE Select	ENSP00000362344.2:p.His508ProfsTer?
ENST00000373225.7:c.1372dup	ENSP00000362322.3:p.His458ProfsTer?
ENST00000373228.5:c.*179dup	ENSP00000362325.1:n.*179dup
ENST00000373247.6:c.1522dup	ENSP00000362344.2:p.His508ProfsTer?
ENST00000393706.6:c.1444dup	ENSP00000377309.2:p.His482ProfsTer?
ENST00000460181.5:n.1510dup
ENST00000467826.5:n.709+39dup
ENST00000475270.1:n.348dup
ENST00000630236.2:c.*246dup	ENSP00000486766.1:n.*246dup
NM_001018078.2:c.1372dup	NP_001018088.1:p.His458ProfsTer?
NM_001288803.1:c.1444dup	NP_001275732.1:p.His482ProfsTer?
NM_004957.5:c.1522dup	NP_004948.4:p.His508ProfsTer?
NR_110170.1:n.1570dup
XM_005251864.2:c.1483+39dup	XP_005251921.1:n.1483+39dup
XM_011518437.1:c.1372dup	XP_011516739.1:p.His458ProfsTer?
XM_011518438.1:c.1372dup	XP_011516740.1:p.His458ProfsTer?
XM_011518439.1:c.679dup	XP_011516741.1:p.His227ProfsTer?
XR_242581.2:n.1419dup
XR_242582.2:n.1380+39dup
XM_005251864.4:c.1483+39dup	XP_005251921.1:n.1483+39dup
XM_011518439.2:c.679dup	XP_011516741.1:p.His227ProfsTer?
XM_017014565.2:c.1333+39dup	XP_016870054.1:n.1333+39dup
XM_017014566.1:c.679dup	XP_016870055.1:p.His227ProfsTer?
XR_242581.4:n.1417dup
XR_242582.4:n.1378+39dup
NM_004957.6:c.1522dup MANE Select	NP_004948.4:p.His508ProfsTer?