Canonical Allele Identifier: CA2579461145
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813723_127813729del , CM000671.2:g.127813723_127813729del GRCh38
NC_000009.11:g.130576002_130576008del , CM000671.1:g.130576002_130576008del GRCh37
NC_000009.10:g.129615823_129615829del NCBI36
NG_009551.1:g.46044_46050del , LRG_589:g.46044_46050del
NG_023245.1:g.15849_15855del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.*119_*125del MANE Select ENSP00000362344.2:n.*119_*125del
ENST00000373225.7:c.*119_*125del ENSP00000362322.3:n.*119_*125del
ENST00000373247.6:c.*119_*125del ENSP00000362344.2:n.*119_*125del
ENST00000393706.6:c.*119_*125del ENSP00000377309.2:n.*119_*125del
ENST00000460181.5:n.1871_1877del
ENST00000467826.5:n.709+400_709+406del
ENST00000630236.2:c.*607_*613del ENSP00000486766.1:n.*607_*613del
NM_001018078.2:c.*119_*125del NP_001018088.1:n.*119_*125del
NM_001288803.1:c.*119_*125del NP_001275732.1:n.*119_*125del
NM_004957.5:c.*119_*125del NP_004948.4:n.*119_*125del
NR_110170.1:n.1931_1937del
XM_005251864.2:c.1483+400_1483+406del XP_005251921.1:n.1483+400_1483+406del
XM_011518437.1:c.*119_*125del XP_011516739.1:n.*119_*125del
XM_011518438.1:c.*119_*125del XP_011516740.1:n.*119_*125del
XM_011518439.1:c.*119_*125del XP_011516741.1:n.*119_*125del
XR_242581.2:n.1780_1786del
XR_242582.2:n.1380+400_1380+406del
XM_005251864.4:c.1483+400_1483+406del XP_005251921.1:n.1483+400_1483+406del
XM_011518439.2:c.*119_*125del XP_011516741.1:n.*119_*125del
XM_017014565.2:c.1333+400_1333+406del XP_016870054.1:n.1333+400_1333+406del
XM_017014566.1:c.*119_*125del XP_016870055.1:n.*119_*125del
XR_242581.4:n.1778_1784del
XR_242582.4:n.1378+400_1378+406del
NM_004957.6:c.*119_*125del MANE Select NP_004948.4:n.*119_*125del