Canonical Allele Identifier: CA2579461152

Gene: FPGS

Linked Data

• dbSNP Id: rs2131865342
• gnomAD v4: 9-127813825-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813830_127813831del , CM000671.2:g.127813830_127813831del	GRCh38
NC_000009.11:g.130576109_130576110del , CM000671.1:g.130576109_130576110del	GRCh37
NC_000009.10:g.129615930_129615931del	NCBI36
NG_009551.1:g.45942_45943del , LRG_589:g.45942_45943del
NG_023245.1:g.15956_15957del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*226_*227del MANE Select	ENSP00000362344.2:n.*226_*227del
ENST00000373225.7:c.*226_*227del	ENSP00000362322.3:n.*226_*227del
ENST00000373247.6:c.*226_*227del	ENSP00000362344.2:n.*226_*227del
ENST00000393706.6:c.*226_*227del	ENSP00000377309.2:n.*226_*227del
ENST00000460181.5:n.1978_1979del
ENST00000467826.5:n.710-378_710-377del
ENST00000630236.2:c.*714_*715del	ENSP00000486766.1:n.*714_*715del
NM_001018078.2:c.*226_*227del	NP_001018088.1:n.*226_*227del
NM_001288803.1:c.*226_*227del	NP_001275732.1:n.*226_*227del
NM_004957.5:c.*226_*227del	NP_004948.4:n.*226_*227del
NR_110170.1:n.2038_2039del
XM_005251864.2:c.1484-378_1484-377del	XP_005251921.1:n.1484-378_1484-377del
XM_011518437.1:c.*226_*227del	XP_011516739.1:n.*226_*227del
XM_011518438.1:c.*226_*227del	XP_011516740.1:n.*226_*227del
XM_011518439.1:c.*226_*227del	XP_011516741.1:n.*226_*227del
XR_242581.2:n.1887_1888del
XR_242582.2:n.1381-378_1381-377del
XM_005251864.4:c.1484-378_1484-377del	XP_005251921.1:n.1484-378_1484-377del
XM_011518439.2:c.*226_*227del	XP_011516741.1:n.*226_*227del
XM_017014565.2:c.1334-378_1334-377del	XP_016870054.1:n.1334-378_1334-377del
XM_017014566.1:c.*226_*227del	XP_016870055.1:n.*226_*227del
XR_242581.4:n.1885_1886del
XR_242582.4:n.1379-378_1379-377del
NM_004957.6:c.*226_*227del MANE Select	NP_004948.4:n.*226_*227del