Canonical Allele Identifier: CA2603096450

Gene: FPGS

Linked Data

• gnomAD v3: 9-127813827-C-CTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTA
• gnomAD v4: 9-127813827-C-CTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813859_127813860insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC , CM000671.2:g.127813859_127813860insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	GRCh38
NC_000009.11:g.130576138_130576139insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC , CM000671.1:g.130576138_130576139insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	GRCh37
NC_000009.10:g.129615959_129615960insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	NCBI36
NG_009551.1:g.45941_45942insTAGCAGAGGGGCTCCCCGGGGCTCTCACTGTTGCAGTGGCTGAACGGCCAGGCCACTGCAACAGTGAGA , LRG_589:g.45941_45942insTAGCAGAGGGGCTCCCCGGGGCTCTCACTGTTGCAGTGGCTGAACGGCCAGGCCACTGCAACAGTGAGA
NG_023245.1:g.15985_15986insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC MANE Select	ENSP00000362344.2:n.*255_*256insACTGCAACA...
ENST00000373225.7:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	ENSP00000362322.3:n.*255_*256insACTGCAACA...
ENST00000373247.6:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	ENSP00000362344.2:n.*255_*256insACTGCAACA...
ENST00000393706.6:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	ENSP00000377309.2:n.*255_*256insACTGCAACA...
ENST00000460181.5:n.2007_2008insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC
ENST00000467826.5:n.710-349_710-348insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC
ENST00000630236.2:c.*743_*744insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	ENSP00000486766.1:n.*743_*744insACTGCAACA...
NM_001018078.2:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	NP_001018088.1:n.*255_*256insACTGCAACAGTG...
NM_001288803.1:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	NP_001275732.1:n.*255_*256insACTGCAACAGTG...
NM_004957.5:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	NP_004948.4:n.*255_*256insACTGCAACAGTGAGA...
NR_110170.1:n.2067_2068insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC
XM_005251864.2:c.1484-349_1484-348insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	XP_005251921.1:n.1484-349_1484-348insACTG...
XM_011518437.1:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	XP_011516739.1:n.*255_*256insACTGCAACAGTG...
XM_011518438.1:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	XP_011516740.1:n.*255_*256insACTGCAACAGTG...
XM_011518439.1:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	XP_011516741.1:n.*255_*256insACTGCAACAGTG...
XR_242581.2:n.1916_1917insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC
XR_242582.2:n.1381-349_1381-348insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC
XM_005251864.4:c.1484-349_1484-348insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	XP_005251921.1:n.1484-349_1484-348insACTG...
XM_011518439.2:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	XP_011516741.1:n.*255_*256insACTGCAACAGTG...
XM_017014565.2:c.1334-349_1334-348insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	XP_016870054.1:n.1334-349_1334-348insACTG...
XM_017014566.1:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC	XP_016870055.1:n.*255_*256insACTGCAACAGTG...
XR_242581.4:n.1914_1915insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC
XR_242582.4:n.1379-349_1379-348insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC
NM_004957.6:c.*255_*256insACTGCAACAGTGAGAGCCCCGGGGAGCCCCTCTGCTATCTCACTGTTGCAGTGGCCTGGCCGTTCAGCC MANE Select	NP_004948.4:n.*255_*256insACTGCAACAGTGAGA...