Canonical Allele Identifier: CA2691804079

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813810-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813812_127813814del , CM000671.2:g.127813812_127813814del	GRCh38
NC_000009.11:g.130576091_130576093del , CM000671.1:g.130576091_130576093del	GRCh37
NC_000009.10:g.129615912_129615914del	NCBI36
NG_009551.1:g.45956_45958del , LRG_589:g.45956_45958del
NG_023245.1:g.15938_15940del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*208_*210del MANE Select	ENSP00000362344.2:n.*208_*210del
ENST00000373225.7:c.*208_*210del	ENSP00000362322.3:n.*208_*210del
ENST00000373247.6:c.*208_*210del	ENSP00000362344.2:n.*208_*210del
ENST00000393706.6:c.*208_*210del	ENSP00000377309.2:n.*208_*210del
ENST00000460181.5:n.1960_1962del
ENST00000467826.5:n.710-396_710-394del
ENST00000630236.2:c.*696_*698del	ENSP00000486766.1:n.*696_*698del
NM_001018078.2:c.*208_*210del	NP_001018088.1:n.*208_*210del
NM_001288803.1:c.*208_*210del	NP_001275732.1:n.*208_*210del
NM_004957.5:c.*208_*210del	NP_004948.4:n.*208_*210del
NR_110170.1:n.2020_2022del
XM_005251864.2:c.1484-396_1484-394del	XP_005251921.1:n.1484-396_1484-394del
XM_011518437.1:c.*208_*210del	XP_011516739.1:n.*208_*210del
XM_011518438.1:c.*208_*210del	XP_011516740.1:n.*208_*210del
XM_011518439.1:c.*208_*210del	XP_011516741.1:n.*208_*210del
XR_242581.2:n.1869_1871del
XR_242582.2:n.1381-396_1381-394del
XM_005251864.4:c.1484-396_1484-394del	XP_005251921.1:n.1484-396_1484-394del
XM_011518439.2:c.*208_*210del	XP_011516741.1:n.*208_*210del
XM_017014565.2:c.1334-396_1334-394del	XP_016870054.1:n.1334-396_1334-394del
XM_017014566.1:c.*208_*210del	XP_016870055.1:n.*208_*210del
XR_242581.4:n.1867_1869del
XR_242582.4:n.1379-396_1379-394del
NM_004957.6:c.*208_*210del MANE Select	NP_004948.4:n.*208_*210del