Canonical Allele Identifier: CA2603096451

Gene: FPGS

Linked Data

• gnomAD v3: 9-127813854-T-TC
• gnomAD v4: 9-127813854-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813855dup , CM000671.2:g.127813855dup	GRCh38
NC_000009.11:g.130576134dup , CM000671.1:g.130576134dup	GRCh37
NC_000009.10:g.129615955dup	NCBI36
NG_009551.1:g.45914dup , LRG_589:g.45914dup
NG_023245.1:g.15981dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*251dup MANE Select	ENSP00000362344.2:n.*251dup
ENST00000373225.7:c.*251dup	ENSP00000362322.3:n.*251dup
ENST00000373247.6:c.*251dup	ENSP00000362344.2:n.*251dup
ENST00000393706.6:c.*251dup	ENSP00000377309.2:n.*251dup
ENST00000460181.5:n.2003dup
ENST00000467826.5:n.710-353dup
ENST00000630236.2:c.*739dup	ENSP00000486766.1:n.*739dup
NM_001018078.2:c.*251dup	NP_001018088.1:n.*251dup
NM_001288803.1:c.*251dup	NP_001275732.1:n.*251dup
NM_004957.5:c.*251dup	NP_004948.4:n.*251dup
NR_110170.1:n.2063dup
XM_005251864.2:c.1484-353dup	XP_005251921.1:n.1484-353dup
XM_011518437.1:c.*251dup	XP_011516739.1:n.*251dup
XM_011518438.1:c.*251dup	XP_011516740.1:n.*251dup
XM_011518439.1:c.*251dup	XP_011516741.1:n.*251dup
XR_242581.2:n.1912dup
XR_242582.2:n.1381-353dup
XM_005251864.4:c.1484-353dup	XP_005251921.1:n.1484-353dup
XM_011518439.2:c.*251dup	XP_011516741.1:n.*251dup
XM_017014565.2:c.1334-353dup	XP_016870054.1:n.1334-353dup
XM_017014566.1:c.*251dup	XP_016870055.1:n.*251dup
XR_242581.4:n.1910dup
XR_242582.4:n.1379-353dup
NM_004957.6:c.*251dup MANE Select	NP_004948.4:n.*251dup