Canonical Allele Identifier: CA1129272009

Gene: FPGS

Linked Data

• dbSNP Id: rs1737822892

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813354dup , CM000671.2:g.127813354dup	GRCh38
NC_000009.11:g.130575633dup , CM000671.1:g.130575633dup	GRCh37
NC_000009.10:g.129615454dup	NCBI36
NG_009551.1:g.46415dup , LRG_589:g.46415dup
NG_023245.1:g.15480dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1514dup MANE Select	ENSP00000362344.2:p.His505GlnfsTer?
ENST00000373225.7:c.1364dup	ENSP00000362322.3:p.His455GlnfsTer?
ENST00000373228.5:c.*171dup	ENSP00000362325.1:n.*171dup
ENST00000373247.6:c.1514dup	ENSP00000362344.2:p.His505GlnfsTer?
ENST00000393706.6:c.1436dup	ENSP00000377309.2:p.His479GlnfsTer?
ENST00000460181.5:n.1502dup
ENST00000467826.5:n.709+31dup
ENST00000475270.1:n.340dup
ENST00000630236.2:c.*238dup	ENSP00000486766.1:n.*238dup
NM_001018078.2:c.1364dup	NP_001018088.1:p.His455GlnfsTer?
NM_001288803.1:c.1436dup	NP_001275732.1:p.His479GlnfsTer?
NM_004957.5:c.1514dup	NP_004948.4:p.His505GlnfsTer?
NR_110170.1:n.1562dup
XM_005251864.2:c.1483+31dup	XP_005251921.1:n.1483+31dup
XM_011518437.1:c.1364dup	XP_011516739.1:p.His455GlnfsTer?
XM_011518438.1:c.1364dup	XP_011516740.1:p.His455GlnfsTer?
XM_011518439.1:c.671dup	XP_011516741.1:p.His224GlnfsTer?
XR_242581.2:n.1411dup
XR_242582.2:n.1380+31dup
XM_005251864.4:c.1483+31dup	XP_005251921.1:n.1483+31dup
XM_011518439.2:c.671dup	XP_011516741.1:p.His224GlnfsTer?
XM_017014565.2:c.1333+31dup	XP_016870054.1:n.1333+31dup
XM_017014566.1:c.671dup	XP_016870055.1:p.His224GlnfsTer?
XR_242581.4:n.1409dup
XR_242582.4:n.1378+31dup
NM_004957.6:c.1514dup MANE Select	NP_004948.4:p.His505GlnfsTer?