Canonical Allele Identifier: CA2691804035
Gene: FPGS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813784_127813785insCTGTC , CM000671.2:g.127813784_127813785insCTGTC GRCh38
NC_000009.11:g.130576063_130576064insCTGTC , CM000671.1:g.130576063_130576064insCTGTC GRCh37
NC_000009.10:g.129615884_129615885insCTGTC NCBI36
NG_009551.1:g.45987_45988insAGGAC , LRG_589:g.45987_45988insAGGAC
NG_023245.1:g.15910_15911insCTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.*180_*181insCTGTC MANE Select ENSP00000362344.2:n.*180_*181insCTGTC
ENST00000373225.7:c.*180_*181insCTGTC ENSP00000362322.3:n.*180_*181insCTGTC
ENST00000373247.6:c.*180_*181insCTGTC ENSP00000362344.2:n.*180_*181insCTGTC
ENST00000393706.6:c.*180_*181insCTGTC ENSP00000377309.2:n.*180_*181insCTGTC
ENST00000460181.5:n.1932_1933insCTGTC
ENST00000467826.5:n.710-424_710-423insCTGTC
ENST00000630236.2:c.*668_*669insCTGTC ENSP00000486766.1:n.*668_*669insCTGTC
NM_001018078.2:c.*180_*181insCTGTC NP_001018088.1:n.*180_*181insCTGTC
NM_001288803.1:c.*180_*181insCTGTC NP_001275732.1:n.*180_*181insCTGTC
NM_004957.5:c.*180_*181insCTGTC NP_004948.4:n.*180_*181insCTGTC
NR_110170.1:n.1992_1993insCTGTC
XM_005251864.2:c.1484-424_1484-423insCTGTC XP_005251921.1:n.1484-424_1484-423insCTGTC
XM_011518437.1:c.*180_*181insCTGTC XP_011516739.1:n.*180_*181insCTGTC
XM_011518438.1:c.*180_*181insCTGTC XP_011516740.1:n.*180_*181insCTGTC
XM_011518439.1:c.*180_*181insCTGTC XP_011516741.1:n.*180_*181insCTGTC
XR_242581.2:n.1841_1842insCTGTC
XR_242582.2:n.1381-424_1381-423insCTGTC
XM_005251864.4:c.1484-424_1484-423insCTGTC XP_005251921.1:n.1484-424_1484-423insCTGTC
XM_011518439.2:c.*180_*181insCTGTC XP_011516741.1:n.*180_*181insCTGTC
XM_017014565.2:c.1334-424_1334-423insCTGTC XP_016870054.1:n.1334-424_1334-423insCTGTC
XM_017014566.1:c.*180_*181insCTGTC XP_016870055.1:n.*180_*181insCTGTC
XR_242581.4:n.1839_1840insCTGTC
XR_242582.4:n.1379-424_1379-423insCTGTC
NM_004957.6:c.*180_*181insCTGTC MANE Select NP_004948.4:n.*180_*181insCTGTC