Canonical Allele Identifier: CA2691803960
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813709_127813711del , CM000671.2:g.127813709_127813711del GRCh38
NC_000009.11:g.130575988_130575990del , CM000671.1:g.130575988_130575990del GRCh37
NC_000009.10:g.129615809_129615811del NCBI36
NG_009551.1:g.46058_46060del , LRG_589:g.46058_46060del
NG_023245.1:g.15835_15837del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.*105_*107del MANE Select ENSP00000362344.2:n.*105_*107del
ENST00000373225.7:c.*105_*107del ENSP00000362322.3:n.*105_*107del
ENST00000373247.6:c.*105_*107del ENSP00000362344.2:n.*105_*107del
ENST00000393706.6:c.*105_*107del ENSP00000377309.2:n.*105_*107del
ENST00000460181.5:n.1857_1859del
ENST00000467826.5:n.709+386_709+388del
ENST00000630236.2:c.*593_*595del ENSP00000486766.1:n.*593_*595del
NM_001018078.2:c.*105_*107del NP_001018088.1:n.*105_*107del
NM_001288803.1:c.*105_*107del NP_001275732.1:n.*105_*107del
NM_004957.5:c.*105_*107del NP_004948.4:n.*105_*107del
NR_110170.1:n.1917_1919del
XM_005251864.2:c.1483+386_1483+388del XP_005251921.1:n.1483+386_1483+388del
XM_011518437.1:c.*105_*107del XP_011516739.1:n.*105_*107del
XM_011518438.1:c.*105_*107del XP_011516740.1:n.*105_*107del
XM_011518439.1:c.*105_*107del XP_011516741.1:n.*105_*107del
XR_242581.2:n.1766_1768del
XR_242582.2:n.1380+386_1380+388del
XM_005251864.4:c.1483+386_1483+388del XP_005251921.1:n.1483+386_1483+388del
XM_011518439.2:c.*105_*107del XP_011516741.1:n.*105_*107del
XM_017014565.2:c.1333+386_1333+388del XP_016870054.1:n.1333+386_1333+388del
XM_017014566.1:c.*105_*107del XP_016870055.1:n.*105_*107del
XR_242581.4:n.1764_1766del
XR_242582.4:n.1378+386_1378+388del
NM_004957.6:c.*105_*107del MANE Select NP_004948.4:n.*105_*107del