Canonical Allele Identifier: CA918559701
Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs1564449063

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813806_127813807del , CM000671.2:g.127813806_127813807del GRCh38
NC_000009.11:g.130576085_130576086del , CM000671.1:g.130576085_130576086del GRCh37
NC_000009.10:g.129615906_129615907del NCBI36
NG_009551.1:g.45963_45964del , LRG_589:g.45963_45964del
NG_023245.1:g.15932_15933del

Transcript Alleles

HGVS Amino-acid change
ENST00000373247.7:c.*202_*203del MANE Select ENSP00000362344.2:n.*202_*203del
ENST00000373225.7:c.*202_*203del ENSP00000362322.3:n.*202_*203del
ENST00000373247.6:c.*202_*203del ENSP00000362344.2:n.*202_*203del
ENST00000393706.6:c.*202_*203del ENSP00000377309.2:n.*202_*203del
ENST00000460181.5:n.1954_1955del
ENST00000467826.5:n.710-402_710-401del
ENST00000630236.2:c.*690_*691del ENSP00000486766.1:n.*690_*691del
NM_001018078.2:c.*202_*203del NP_001018088.1:n.*202_*203del
NM_001288803.1:c.*202_*203del NP_001275732.1:n.*202_*203del
NM_004957.5:c.*202_*203del NP_004948.4:n.*202_*203del
NR_110170.1:n.2014_2015del
XM_005251864.2:c.1484-402_1484-401del XP_005251921.1:n.1484-402_1484-401del
XM_011518437.1:c.*202_*203del XP_011516739.1:n.*202_*203del
XM_011518438.1:c.*202_*203del XP_011516740.1:n.*202_*203del
XM_011518439.1:c.*202_*203del XP_011516741.1:n.*202_*203del
XR_242581.2:n.1863_1864del
XR_242582.2:n.1381-402_1381-401del
XM_005251864.4:c.1484-402_1484-401del XP_005251921.1:n.1484-402_1484-401del
XM_011518439.2:c.*202_*203del XP_011516741.1:n.*202_*203del
XM_017014565.2:c.1334-402_1334-401del XP_016870054.1:n.1334-402_1334-401del
XM_017014566.1:c.*202_*203del XP_016870055.1:n.*202_*203del
XR_242581.4:n.1861_1862del
XR_242582.4:n.1379-402_1379-401del
NM_004957.6:c.*202_*203del MANE Select NP_004948.4:n.*202_*203del