Canonical Allele Identifier: CA1504935779
Gene: FGB HGNC NCBI

Linked Data

dbSNP Id: rs1730353941

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154570052del , CM000666.2:g.154570052del GRCh38
NC_000004.11:g.155491204del , CM000666.1:g.155491204del GRCh37
NC_000004.10:g.155710654del NCBI36
NG_008833.1:g.12073del , LRG_558:g.12073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1244+253del MANE Select ENSP00000306099.4:n.1244+253del
ENST00000302068.8:c.1244+253del ENSP00000306099.4:n.1244+253del
ENST00000502545.5:n.940-367del
ENST00000509493.1:c.587+253del ENSP00000426757.1:n.587+253del
NM_001184741.1:c.1067+253del NP_001171670.1:n.1067+253del
NM_005141.4:c.1244+253del , LRG_558t1:c.1244+253del NP_005132.2:n.1244+253del
NM_001382759.1:c.1112+253del NP_001369688.1:n.1112+253del
NM_001382760.1:c.1244+253del NP_001369689.1:n.1244+253del
NM_001382761.1:c.1244+253del NP_001369690.1:n.1244+253del
NM_001382762.1:c.944+253del NP_001369691.1:n.944+253del
NM_001382763.1:c.1235+253del NP_001369692.1:n.1235+253del
NM_001382764.1:c.*18+253del NP_001369693.1:n.*18+253del
NM_001382765.1:c.1220+277del NP_001369694.1:n.1220+277del
NM_005141.5:c.1244+253del MANE Select NP_005132.2:n.1244+253del