Canonical Allele Identifier: CA2954040933
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813716_127813717dup , CM000671.2:g.127813716_127813717dup GRCh38
NC_000009.11:g.130575995_130575996dup , CM000671.1:g.130575995_130575996dup GRCh37
NC_000009.10:g.129615816_129615817dup NCBI36
NG_009551.1:g.46052_46053dup , LRG_589:g.46052_46053dup
NG_023245.1:g.15842_15843dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.*112_*113dup MANE Select ENSP00000362344.2:n.*112_*113dup
ENST00000373225.7:c.*112_*113dup ENSP00000362322.3:n.*112_*113dup
ENST00000373247.6:c.*112_*113dup ENSP00000362344.2:n.*112_*113dup
ENST00000393706.6:c.*112_*113dup ENSP00000377309.2:n.*112_*113dup
ENST00000460181.5:n.1864_1865dup
ENST00000467826.5:n.709+393_709+394dup
ENST00000630236.2:c.*600_*601dup ENSP00000486766.1:n.*600_*601dup
NM_001018078.2:c.*112_*113dup NP_001018088.1:n.*112_*113dup
NM_001288803.1:c.*112_*113dup NP_001275732.1:n.*112_*113dup
NM_004957.5:c.*112_*113dup NP_004948.4:n.*112_*113dup
NR_110170.1:n.1924_1925dup
XM_005251864.2:c.1483+393_1483+394dup XP_005251921.1:n.1483+393_1483+394dup
XM_011518437.1:c.*112_*113dup XP_011516739.1:n.*112_*113dup
XM_011518438.1:c.*112_*113dup XP_011516740.1:n.*112_*113dup
XM_011518439.1:c.*112_*113dup XP_011516741.1:n.*112_*113dup
XR_242581.2:n.1773_1774dup
XR_242582.2:n.1380+393_1380+394dup
XM_005251864.4:c.1483+393_1483+394dup XP_005251921.1:n.1483+393_1483+394dup
XM_011518439.2:c.*112_*113dup XP_011516741.1:n.*112_*113dup
XM_017014565.2:c.1333+393_1333+394dup XP_016870054.1:n.1333+393_1333+394dup
XM_017014566.1:c.*112_*113dup XP_016870055.1:n.*112_*113dup
XR_242581.4:n.1771_1772dup
XR_242582.4:n.1378+393_1378+394dup
NM_004957.6:c.*112_*113dup MANE Select NP_004948.4:n.*112_*113dup