Canonical Allele Identifier: CA555971632
Gene: FGB HGNC NCBI

Linked Data

dbSNP Id: rs1418387777

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569603del , CM000666.2:g.154569603del GRCh38
NC_000004.11:g.155490755del , CM000666.1:g.155490755del GRCh37
NC_000004.10:g.155710205del NCBI36
NG_008833.1:g.11624del , LRG_558:g.11624del

Transcript Alleles

HGVS Amino-acid change
ENST00000302068.9:c.1048del MANE Select ENSP00000306099.4:p.Asp350ThrfsTer3
ENST00000302068.8:c.1048del ENSP00000306099.4:p.Asp350ThrfsTer3
ENST00000502545.5:n.939+296del
ENST00000509493.1:c.391del ENSP00000426757.1:p.Asp131ThrfsTer3
NM_001184741.1:c.871del NP_001171670.1:p.Asp291ThrfsTer3
NM_005141.4:c.1048del , LRG_558t1:c.1048del NP_005132.2:p.Asp350ThrfsTer3
NM_001382759.1:c.916del NP_001369688.1:p.Asp306ThrfsTer3
NM_001382760.1:c.1048del NP_001369689.1:p.Asp350ThrfsTer3
NM_001382761.1:c.1048del NP_001369690.1:p.Asp350ThrfsTer3
NM_001382762.1:c.748del NP_001369691.1:p.Asp250ThrfsTer3
NM_001382763.1:c.1039del NP_001369692.1:p.Asp347ThrfsTer3
NM_001382764.1:c.1048del NP_001369693.1:p.Asp350ThrfsTer3
NM_001382765.1:c.1048del NP_001369694.1:p.Asp350ThrfsTer3
NM_005141.5:c.1048del MANE Select NP_005132.2:p.Asp350ThrfsTer3