Canonical Allele Identifier: CA2691804038

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813782-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813787_127813788del , CM000671.2:g.127813787_127813788del	GRCh38
NC_000009.11:g.130576066_130576067del , CM000671.1:g.130576066_130576067del	GRCh37
NC_000009.10:g.129615887_129615888del	NCBI36
NG_009551.1:g.45985_45986del , LRG_589:g.45985_45986del
NG_023245.1:g.15913_15914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.*183_*184del MANE Select	ENSP00000362344.2:n.*183_*184del
ENST00000373225.7:c.*183_*184del	ENSP00000362322.3:n.*183_*184del
ENST00000373247.6:c.*183_*184del	ENSP00000362344.2:n.*183_*184del
ENST00000393706.6:c.*183_*184del	ENSP00000377309.2:n.*183_*184del
ENST00000460181.5:n.1935_1936del
ENST00000467826.5:n.710-421_710-420del
ENST00000630236.2:c.*671_*672del	ENSP00000486766.1:n.*671_*672del
NM_001018078.2:c.*183_*184del	NP_001018088.1:n.*183_*184del
NM_001288803.1:c.*183_*184del	NP_001275732.1:n.*183_*184del
NM_004957.5:c.*183_*184del	NP_004948.4:n.*183_*184del
NR_110170.1:n.1995_1996del
XM_005251864.2:c.1484-421_1484-420del	XP_005251921.1:n.1484-421_1484-420del
XM_011518437.1:c.*183_*184del	XP_011516739.1:n.*183_*184del
XM_011518438.1:c.*183_*184del	XP_011516740.1:n.*183_*184del
XM_011518439.1:c.*183_*184del	XP_011516741.1:n.*183_*184del
XR_242581.2:n.1844_1845del
XR_242582.2:n.1381-421_1381-420del
XM_005251864.4:c.1484-421_1484-420del	XP_005251921.1:n.1484-421_1484-420del
XM_011518439.2:c.*183_*184del	XP_011516741.1:n.*183_*184del
XM_017014565.2:c.1334-421_1334-420del	XP_016870054.1:n.1334-421_1334-420del
XM_017014566.1:c.*183_*184del	XP_016870055.1:n.*183_*184del
XR_242581.4:n.1842_1843del
XR_242582.4:n.1379-421_1379-420del
NM_004957.6:c.*183_*184del MANE Select	NP_004948.4:n.*183_*184del