Canonical Allele Identifier: CA2691803877

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813398-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813401dup , CM000671.2:g.127813401dup	GRCh38
NC_000009.11:g.130575680dup , CM000671.1:g.130575680dup	GRCh37
NC_000009.10:g.129615501dup	NCBI36
NG_009551.1:g.46370dup , LRG_589:g.46370dup
NG_023245.1:g.15527dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1561dup MANE Select	ENSP00000362344.2:p.Ser521PhefsTer19
ENST00000373225.7:c.1411dup	ENSP00000362322.3:p.Ser471PhefsTer19
ENST00000373228.5:c.*218dup	ENSP00000362325.1:n.*218dup
ENST00000373247.6:c.1561dup	ENSP00000362344.2:p.Ser521PhefsTer19
ENST00000393706.6:c.1483dup	ENSP00000377309.2:p.Ser495PhefsTer19
ENST00000460181.5:n.1549dup
ENST00000467826.5:n.709+78dup
ENST00000475270.1:n.387dup
ENST00000630236.2:c.*285dup	ENSP00000486766.1:n.*285dup
NM_001018078.2:c.1411dup	NP_001018088.1:p.Ser471PhefsTer19
NM_001288803.1:c.1483dup	NP_001275732.1:p.Ser495PhefsTer19
NM_004957.5:c.1561dup	NP_004948.4:p.Ser521PhefsTer19
NR_110170.1:n.1609dup
XM_005251864.2:c.1483+78dup	XP_005251921.1:n.1483+78dup
XM_011518437.1:c.1411dup	XP_011516739.1:p.Ser471PhefsTer19
XM_011518438.1:c.1411dup	XP_011516740.1:p.Ser471PhefsTer19
XM_011518439.1:c.718dup	XP_011516741.1:p.Ser240PhefsTer19
XR_242581.2:n.1458dup
XR_242582.2:n.1380+78dup
XM_005251864.4:c.1483+78dup	XP_005251921.1:n.1483+78dup
XM_011518439.2:c.718dup	XP_011516741.1:p.Ser240PhefsTer19
XM_017014565.2:c.1333+78dup	XP_016870054.1:n.1333+78dup
XM_017014566.1:c.718dup	XP_016870055.1:p.Ser240PhefsTer19
XR_242581.4:n.1456dup
XR_242582.4:n.1378+78dup
NM_004957.6:c.1561dup MANE Select	NP_004948.4:p.Ser521PhefsTer19