Canonical Allele Identifier: CA2954040910

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813698dup , CM000671.2:g.127813698dup	GRCh38
NC_000009.11:g.130575977dup , CM000671.1:g.130575977dup	GRCh37
NC_000009.10:g.129615798dup	NCBI36
NG_009551.1:g.46071dup , LRG_589:g.46071dup
NG_023245.1:g.15824dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.*94dup MANE Select	ENSP00000362344.2:n.*94dup
ENST00000373225.7:c.*94dup	ENSP00000362322.3:n.*94dup
ENST00000373247.6:c.*94dup	ENSP00000362344.2:n.*94dup
ENST00000393706.6:c.*94dup	ENSP00000377309.2:n.*94dup
ENST00000460181.5:n.1846dup
ENST00000467826.5:n.709+375dup
ENST00000630236.2:c.*582dup	ENSP00000486766.1:n.*582dup
NM_001018078.2:c.*94dup	NP_001018088.1:n.*94dup
NM_001288803.1:c.*94dup	NP_001275732.1:n.*94dup
NM_004957.5:c.*94dup	NP_004948.4:n.*94dup
NR_110170.1:n.1906dup
XM_005251864.2:c.1483+375dup	XP_005251921.1:n.1483+375dup
XM_011518437.1:c.*94dup	XP_011516739.1:n.*94dup
XM_011518438.1:c.*94dup	XP_011516740.1:n.*94dup
XM_011518439.1:c.*94dup	XP_011516741.1:n.*94dup
XR_242581.2:n.1755dup
XR_242582.2:n.1380+375dup
XM_005251864.4:c.1483+375dup	XP_005251921.1:n.1483+375dup
XM_011518439.2:c.*94dup	XP_011516741.1:n.*94dup
XM_017014565.2:c.1333+375dup	XP_016870054.1:n.1333+375dup
XM_017014566.1:c.*94dup	XP_016870055.1:n.*94dup
XR_242581.4:n.1753dup
XR_242582.4:n.1378+375dup
NM_004957.6:c.*94dup MANE Select	NP_004948.4:n.*94dup