Canonical Allele Identifier: CA200297485

Gene: FPGS

Linked Data

• dbSNP Id: rs1007505444
• gnomAD v3: 9-127813856-AGCCTGTCTCCCCCAACACCCC-A
• gnomAD v4: 9-127813856-AGCCTGTCTCCCCCAACACCCC-A
• MyVariant Identifiers: chr9:g.130576136_130576156del (hg19) ; chr9:g.127813857_127813877del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813862_127813882del , CM000671.2:g.127813862_127813882del	GRCh38
NC_000009.11:g.130576141_130576161del , CM000671.1:g.130576141_130576161del	GRCh37
NC_000009.10:g.129615962_129615982del	NCBI36
NG_009551.1:g.45892_45912del , LRG_589:g.45892_45912del
NG_023245.1:g.15988_16008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.*258_*278del MANE Select	ENSP00000362344.2:n.*258_*278del
ENST00000373225.7:c.*258_*278del	ENSP00000362322.3:n.*258_*278del
ENST00000373247.6:c.*258_*278del	ENSP00000362344.2:n.*258_*278del
ENST00000393706.6:c.*258_*278del	ENSP00000377309.2:n.*258_*278del
ENST00000460181.5:n.2010_2030del
ENST00000467826.5:n.710-346_710-326del
ENST00000630236.2:c.*746_*766del	ENSP00000486766.1:n.*746_*766del
NM_001018078.2:c.*258_*278del	NP_001018088.1:n.*258_*278del
NM_001288803.1:c.*258_*278del	NP_001275732.1:n.*258_*278del
NM_004957.5:c.*258_*278del	NP_004948.4:n.*258_*278del
NR_110170.1:n.2070_2090del
XM_005251864.2:c.1484-346_1484-326del	XP_005251921.1:n.1484-346_1484-326del
XM_011518437.1:c.*258_*278del	XP_011516739.1:n.*258_*278del
XM_011518438.1:c.*258_*278del	XP_011516740.1:n.*258_*278del
XM_011518439.1:c.*258_*278del	XP_011516741.1:n.*258_*278del
XR_242581.2:n.1919_1939del
XR_242582.2:n.1381-346_1381-326del
XM_005251864.4:c.1484-346_1484-326del	XP_005251921.1:n.1484-346_1484-326del
XM_011518439.2:c.*258_*278del	XP_011516741.1:n.*258_*278del
XM_017014565.2:c.1334-346_1334-326del	XP_016870054.1:n.1334-346_1334-326del
XM_017014566.1:c.*258_*278del	XP_016870055.1:n.*258_*278del
XR_242581.4:n.1917_1937del
XR_242582.4:n.1379-346_1379-326del
NM_004957.6:c.*258_*278del MANE Select	NP_004948.4:n.*258_*278del