Canonical Allele Identifier: CA1879977659

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813800_127813801delinsCT , CM000671.2:g.127813800_127813801delinsCT	GRCh38
NC_000009.11:g.130576079_130576080delinsCT , CM000671.1:g.130576079_130576080delinsCT	GRCh37
NC_000009.10:g.129615900_129615901delinsCT	NCBI36
NG_009551.1:g.45968_45969delinsAG , LRG_589:g.45968_45969delinsAG
NG_023245.1:g.15926_15927delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*196_*197delinsCT MANE Select	ENSP00000362344.2:n.*196_*197delinsCT
ENST00000373225.7:c.*196_*197delinsCT	ENSP00000362322.3:n.*196_*197delinsCT
ENST00000373247.6:c.*196_*197delinsCT	ENSP00000362344.2:n.*196_*197delinsCT
ENST00000393706.6:c.*196_*197delinsCT	ENSP00000377309.2:n.*196_*197delinsCT
ENST00000460181.5:n.1948_1949delinsCT
ENST00000467826.5:n.710-408_710-407delinsCT
ENST00000630236.2:c.*684_*685delinsCT	ENSP00000486766.1:n.*684_*685delinsCT
NM_001018078.2:c.*196_*197delinsCT	NP_001018088.1:n.*196_*197delinsCT
NM_001288803.1:c.*196_*197delinsCT	NP_001275732.1:n.*196_*197delinsCT
NM_004957.5:c.*196_*197delinsCT	NP_004948.4:n.*196_*197delinsCT
NR_110170.1:n.2008_2009delinsCT
XM_005251864.2:c.1484-408_1484-407delinsCT	XP_005251921.1:n.1484-408_1484-407delinsC...
XM_011518437.1:c.*196_*197delinsCT	XP_011516739.1:n.*196_*197delinsCT
XM_011518438.1:c.*196_*197delinsCT	XP_011516740.1:n.*196_*197delinsCT
XM_011518439.1:c.*196_*197delinsCT	XP_011516741.1:n.*196_*197delinsCT
XR_242581.2:n.1857_1858delinsCT
XR_242582.2:n.1381-408_1381-407delinsCT
XM_005251864.4:c.1484-408_1484-407delinsCT	XP_005251921.1:n.1484-408_1484-407delinsC...
XM_011518439.2:c.*196_*197delinsCT	XP_011516741.1:n.*196_*197delinsCT
XM_017014565.2:c.1334-408_1334-407delinsCT	XP_016870054.1:n.1334-408_1334-407delinsC...
XM_017014566.1:c.*196_*197delinsCT	XP_016870055.1:n.*196_*197delinsCT
XR_242581.4:n.1855_1856delinsCT
XR_242582.4:n.1379-408_1379-407delinsCT
NM_004957.6:c.*196_*197delinsCT MANE Select	NP_004948.4:n.*196_*197delinsCT