Canonical Allele Identifier: CA1879977664
Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs1830195326

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813801del , CM000671.2:g.127813801del GRCh38
NC_000009.11:g.130576080del , CM000671.1:g.130576080del GRCh37
NC_000009.10:g.129615901del NCBI36
NG_009551.1:g.45968del , LRG_589:g.45968del
NG_023245.1:g.15927del

Transcript Alleles

HGVS Amino-acid change
ENST00000373247.7:c.*197del MANE Select ENSP00000362344.2:n.*197del
ENST00000373225.7:c.*197del ENSP00000362322.3:n.*197del
ENST00000373247.6:c.*197del ENSP00000362344.2:n.*197del
ENST00000393706.6:c.*197del ENSP00000377309.2:n.*197del
ENST00000460181.5:n.1949del
ENST00000467826.5:n.710-407del
ENST00000630236.2:c.*685del ENSP00000486766.1:n.*685del
NM_001018078.2:c.*197del NP_001018088.1:n.*197del
NM_001288803.1:c.*197del NP_001275732.1:n.*197del
NM_004957.5:c.*197del NP_004948.4:n.*197del
NR_110170.1:n.2009del
XM_005251864.2:c.1484-407del XP_005251921.1:n.1484-407del
XM_011518437.1:c.*197del XP_011516739.1:n.*197del
XM_011518438.1:c.*197del XP_011516740.1:n.*197del
XM_011518439.1:c.*197del XP_011516741.1:n.*197del
XR_242581.2:n.1858del
XR_242582.2:n.1381-407del
XM_005251864.4:c.1484-407del XP_005251921.1:n.1484-407del
XM_011518439.2:c.*197del XP_011516741.1:n.*197del
XM_017014565.2:c.1334-407del XP_016870054.1:n.1334-407del
XM_017014566.1:c.*197del XP_016870055.1:n.*197del
XR_242581.4:n.1856del
XR_242582.4:n.1379-407del
NM_004957.6:c.*197del MANE Select NP_004948.4:n.*197del