Canonical Allele Identifier: CA2529241506

Gene: FPGS

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1514del MANE Select	ENSP00000362344.2:p.His505ProfsTer?
ENST00000373225.7:c.1364del	ENSP00000362322.3:p.His455ProfsTer?
ENST00000373228.5:c.*171del	ENSP00000362325.1:n.*171del
ENST00000373247.6:c.1514del	ENSP00000362344.2:p.His505ProfsTer?
ENST00000393706.6:c.1436del	ENSP00000377309.2:p.His479ProfsTer?
ENST00000460181.5:n.1502del
ENST00000467826.5:n.709+31del
ENST00000475270.1:n.340del
ENST00000630236.2:c.*238del	ENSP00000486766.1:n.*238del
NM_001018078.2:c.1364del	NP_001018088.1:p.His455ProfsTer?
NM_001288803.1:c.1436del	NP_001275732.1:p.His479ProfsTer?
NM_004957.5:c.1514del	NP_004948.4:p.His505ProfsTer?
NR_110170.1:n.1562del
XM_005251864.2:c.1483+31del	XP_005251921.1:n.1483+31del
XM_011518437.1:c.1364del	XP_011516739.1:p.His455ProfsTer?
XM_011518438.1:c.1364del	XP_011516740.1:p.His455ProfsTer?
XM_011518439.1:c.671del	XP_011516741.1:p.His224ProfsTer?
XR_242581.2:n.1411del
XR_242582.2:n.1380+31del
XM_005251864.4:c.1483+31del	XP_005251921.1:n.1483+31del
XM_011518439.2:c.671del	XP_011516741.1:p.His224ProfsTer?
XM_017014565.2:c.1333+31del	XP_016870054.1:n.1333+31del
XM_017014566.1:c.671del	XP_016870055.1:p.His224ProfsTer?
XR_242581.4:n.1409del
XR_242582.4:n.1378+31del
NM_004957.6:c.1514del MANE Select	NP_004948.4:p.His505ProfsTer?