Canonical Allele Identifier: CA1069731987
Gene: FGB HGNC NCBI

Linked Data

dbSNP Id: rs1730341327

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569774del , CM000666.2:g.154569774del GRCh38
NC_000004.11:g.155490926del , CM000666.1:g.155490926del GRCh37
NC_000004.10:g.155710376del NCBI36
NG_008833.1:g.11795del , LRG_558:g.11795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1219del MANE Select ENSP00000306099.4:p.Thr407ArgfsTer10
ENST00000302068.8:c.1219del ENSP00000306099.4:p.Thr407ArgfsTer10
ENST00000502545.5:n.939+467del
ENST00000509493.1:c.562del ENSP00000426757.1:p.Thr188ArgfsTer10
NM_001184741.1:c.1042del NP_001171670.1:p.Thr348ArgfsTer10
NM_005141.4:c.1219del , LRG_558t1:c.1219del NP_005132.2:p.Thr407ArgfsTer10
NM_001382759.1:c.1087del NP_001369688.1:p.Thr363ArgfsTer10
NM_001382760.1:c.1219del NP_001369689.1:p.Thr407ArgfsTer10
NM_001382761.1:c.1219del NP_001369690.1:p.Thr407ArgfsTer29
NM_001382762.1:c.919del NP_001369691.1:p.Thr307ArgfsTer10
NM_001382763.1:c.1210del NP_001369692.1:p.Thr404ArgfsTer10
NM_001382764.1:c.1082del NP_001369693.1:p.His361ProfsTer?
NM_001382765.1:c.1219del NP_001369694.1:p.Thr407ArgfsTer2
NM_005141.5:c.1219del MANE Select NP_005132.2:p.Thr407ArgfsTer10