Canonical Allele Identifier: CA2691804052

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813791-TCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813796_127813886del , CM000671.2:g.127813796_127813886del	GRCh38
NC_000009.11:g.130576075_130576165del , CM000671.1:g.130576075_130576165del	GRCh37
NC_000009.10:g.129615896_129615986del	NCBI36
NG_009551.1:g.45887_45977del , LRG_589:g.45887_45977del
NG_023245.1:g.15922_16012del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*192_*282del MANE Select	ENSP00000362344.2:n.*192_*282del
ENST00000373225.7:c.*192_*282del	ENSP00000362322.3:n.*192_*282del
ENST00000373247.6:c.*192_*282del	ENSP00000362344.2:n.*192_*282del
ENST00000393706.6:c.*192_*282del	ENSP00000377309.2:n.*192_*282del
ENST00000460181.5:n.1944_2034del
ENST00000467826.5:n.710-412_710-322del
ENST00000630236.2:c.*680_*770del	ENSP00000486766.1:n.*680_*770del
NM_001018078.2:c.*192_*282del	NP_001018088.1:n.*192_*282del
NM_001288803.1:c.*192_*282del	NP_001275732.1:n.*192_*282del
NM_004957.5:c.*192_*282del	NP_004948.4:n.*192_*282del
NR_110170.1:n.2004_2094del
XM_005251864.2:c.1484-412_1484-322del	XP_005251921.1:n.1484-412_1484-322del
XM_011518437.1:c.*192_*282del	XP_011516739.1:n.*192_*282del
XM_011518438.1:c.*192_*282del	XP_011516740.1:n.*192_*282del
XM_011518439.1:c.*192_*282del	XP_011516741.1:n.*192_*282del
XR_242581.2:n.1853_1943del
XR_242582.2:n.1381-412_1381-322del
XM_005251864.4:c.1484-412_1484-322del	XP_005251921.1:n.1484-412_1484-322del
XM_011518439.2:c.*192_*282del	XP_011516741.1:n.*192_*282del
XM_017014565.2:c.1334-412_1334-322del	XP_016870054.1:n.1334-412_1334-322del
XM_017014566.1:c.*192_*282del	XP_016870055.1:n.*192_*282del
XR_242581.4:n.1851_1941del
XR_242582.4:n.1379-412_1379-322del
NM_004957.6:c.*192_*282del MANE Select	NP_004948.4:n.*192_*282del