Canonical Allele Identifier: CA1879977899
Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs1830204528

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813951del , CM000671.2:g.127813951del GRCh38
NC_000009.11:g.130576230del , CM000671.1:g.130576230del GRCh37
NC_000009.10:g.129616051del NCBI36
NG_009551.1:g.45820del , LRG_589:g.45820del
NG_023245.1:g.16077del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.*347del MANE Select ENSP00000362344.2:n.*347del
ENST00000373225.7:c.*347del ENSP00000362322.3:n.*347del
ENST00000373247.6:c.*347del ENSP00000362344.2:n.*347del
ENST00000393706.6:c.*347del ENSP00000377309.2:n.*347del
ENST00000460181.5:n.2099del
ENST00000467826.5:n.710-257del
ENST00000630236.2:c.*835del ENSP00000486766.1:n.*835del
NM_001018078.2:c.*347del NP_001018088.1:n.*347del
NM_001288803.1:c.*347del NP_001275732.1:n.*347del
NM_004957.5:c.*347del NP_004948.4:n.*347del
NR_110170.1:n.2159del
XM_005251864.2:c.1484-257del XP_005251921.1:n.1484-257del
XM_011518437.1:c.*347del XP_011516739.1:n.*347del
XM_011518438.1:c.*347del XP_011516740.1:n.*347del
XM_011518439.1:c.*347del XP_011516741.1:n.*347del
XR_242581.2:n.2008del
XR_242582.2:n.1381-257del
XM_005251864.4:c.1484-257del XP_005251921.1:n.1484-257del
XM_011518439.2:c.*347del XP_011516741.1:n.*347del
XM_017014565.2:c.1334-257del XP_016870054.1:n.1334-257del
XM_017014566.1:c.*347del XP_016870055.1:n.*347del
XR_242581.4:n.2006del
XR_242582.4:n.1379-257del
NM_004957.6:c.*347del MANE Select NP_004948.4:n.*347del