Canonical Allele Identifier: CA1129272187

Gene: FPGS

Linked Data

• dbSNP Id: rs1830196919
• gnomAD v3: 9-127813828-TCTCA-T
• gnomAD v4: 9-127813828-TCTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813831_127813834del , CM000671.2:g.127813831_127813834del	GRCh38
NC_000009.11:g.130576110_130576113del , CM000671.1:g.130576110_130576113del	GRCh37
NC_000009.10:g.129615931_129615934del	NCBI36
NG_009551.1:g.45937_45940del , LRG_589:g.45937_45940del
NG_023245.1:g.15957_15960del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*227_*230del MANE Select	ENSP00000362344.2:n.*227_*230del
ENST00000373225.7:c.*227_*230del	ENSP00000362322.3:n.*227_*230del
ENST00000373247.6:c.*227_*230del	ENSP00000362344.2:n.*227_*230del
ENST00000393706.6:c.*227_*230del	ENSP00000377309.2:n.*227_*230del
ENST00000460181.5:n.1979_1982del
ENST00000467826.5:n.710-377_710-374del
ENST00000630236.2:c.*715_*718del	ENSP00000486766.1:n.*715_*718del
NM_001018078.2:c.*227_*230del	NP_001018088.1:n.*227_*230del
NM_001288803.1:c.*227_*230del	NP_001275732.1:n.*227_*230del
NM_004957.5:c.*227_*230del	NP_004948.4:n.*227_*230del
NR_110170.1:n.2039_2042del
XM_005251864.2:c.1484-377_1484-374del	XP_005251921.1:n.1484-377_1484-374del
XM_011518437.1:c.*227_*230del	XP_011516739.1:n.*227_*230del
XM_011518438.1:c.*227_*230del	XP_011516740.1:n.*227_*230del
XM_011518439.1:c.*227_*230del	XP_011516741.1:n.*227_*230del
XR_242581.2:n.1888_1891del
XR_242582.2:n.1381-377_1381-374del
XM_005251864.4:c.1484-377_1484-374del	XP_005251921.1:n.1484-377_1484-374del
XM_011518439.2:c.*227_*230del	XP_011516741.1:n.*227_*230del
XM_017014565.2:c.1334-377_1334-374del	XP_016870054.1:n.1334-377_1334-374del
XM_017014566.1:c.*227_*230del	XP_016870055.1:n.*227_*230del
XR_242581.4:n.1886_1889del
XR_242582.4:n.1379-377_1379-374del
NM_004957.6:c.*227_*230del MANE Select	NP_004948.4:n.*227_*230del