Canonical Allele Identifier: CA2785996451
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813757_127813760dup , CM000671.2:g.127813757_127813760dup GRCh38
NC_000009.11:g.130576036_130576039dup , CM000671.1:g.130576036_130576039dup GRCh37
NC_000009.10:g.129615857_129615860dup NCBI36
NG_009551.1:g.46010_46013dup , LRG_589:g.46010_46013dup
NG_023245.1:g.15883_15886dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.*153_*156dup MANE Select ENSP00000362344.2:n.*153_*156dup
ENST00000373225.7:c.*153_*156dup ENSP00000362322.3:n.*153_*156dup
ENST00000373247.6:c.*153_*156dup ENSP00000362344.2:n.*153_*156dup
ENST00000393706.6:c.*153_*156dup ENSP00000377309.2:n.*153_*156dup
ENST00000460181.5:n.1905_1908dup
ENST00000467826.5:n.709+434_709+437dup
ENST00000630236.2:c.*641_*644dup ENSP00000486766.1:n.*641_*644dup
NM_001018078.2:c.*153_*156dup NP_001018088.1:n.*153_*156dup
NM_001288803.1:c.*153_*156dup NP_001275732.1:n.*153_*156dup
NM_004957.5:c.*153_*156dup NP_004948.4:n.*153_*156dup
NR_110170.1:n.1965_1968dup
XM_005251864.2:c.1483+434_1483+437dup XP_005251921.1:n.1483+434_1483+437dup
XM_011518437.1:c.*153_*156dup XP_011516739.1:n.*153_*156dup
XM_011518438.1:c.*153_*156dup XP_011516740.1:n.*153_*156dup
XM_011518439.1:c.*153_*156dup XP_011516741.1:n.*153_*156dup
XR_242581.2:n.1814_1817dup
XR_242582.2:n.1380+434_1380+437dup
XM_005251864.4:c.1483+434_1483+437dup XP_005251921.1:n.1483+434_1483+437dup
XM_011518439.2:c.*153_*156dup XP_011516741.1:n.*153_*156dup
XM_017014565.2:c.1333+434_1333+437dup XP_016870054.1:n.1333+434_1333+437dup
XM_017014566.1:c.*153_*156dup XP_016870055.1:n.*153_*156dup
XR_242581.4:n.1812_1815dup
XR_242582.4:n.1378+434_1378+437dup
NM_004957.6:c.*153_*156dup MANE Select NP_004948.4:n.*153_*156dup