Canonical Allele Identifier: CA1129272204

Gene: FPGS

Linked Data

• dbSNP Id: rs1830199717
• gnomAD v3: 9-127813859-CT-C
• gnomAD v4: 9-127813859-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813860del , CM000671.2:g.127813860del	GRCh38
NC_000009.11:g.130576139del , CM000671.1:g.130576139del	GRCh37
NC_000009.10:g.129615960del	NCBI36
NG_009551.1:g.45909del , LRG_589:g.45909del
NG_023245.1:g.15986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.*256del MANE Select	ENSP00000362344.2:n.*256del
ENST00000373225.7:c.*256del	ENSP00000362322.3:n.*256del
ENST00000373247.6:c.*256del	ENSP00000362344.2:n.*256del
ENST00000393706.6:c.*256del	ENSP00000377309.2:n.*256del
ENST00000460181.5:n.2008del
ENST00000467826.5:n.710-348del
ENST00000630236.2:c.*744del	ENSP00000486766.1:n.*744del
NM_001018078.2:c.*256del	NP_001018088.1:n.*256del
NM_001288803.1:c.*256del	NP_001275732.1:n.*256del
NM_004957.5:c.*256del	NP_004948.4:n.*256del
NR_110170.1:n.2068del
XM_005251864.2:c.1484-348del	XP_005251921.1:n.1484-348del
XM_011518437.1:c.*256del	XP_011516739.1:n.*256del
XM_011518438.1:c.*256del	XP_011516740.1:n.*256del
XM_011518439.1:c.*256del	XP_011516741.1:n.*256del
XR_242581.2:n.1917del
XR_242582.2:n.1381-348del
XM_005251864.4:c.1484-348del	XP_005251921.1:n.1484-348del
XM_011518439.2:c.*256del	XP_011516741.1:n.*256del
XM_017014565.2:c.1334-348del	XP_016870054.1:n.1334-348del
XM_017014566.1:c.*256del	XP_016870055.1:n.*256del
XR_242581.4:n.1915del
XR_242582.4:n.1379-348del
NM_004957.6:c.*256del MANE Select	NP_004948.4:n.*256del