Canonical Allele Identifier: CA656135171
Gene: FBN1 HGNC NCBI

Linked Data

COSMIC: COSN17182128
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409427_48409428insA , CM000677.2:g.48409427_48409428insA GRCh38
NC_000015.9:g.48701624_48701625insA , CM000677.1:g.48701624_48701625insA GRCh37
NC_000015.8:g.46488916_46488917insA NCBI36
NG_008805.2:g.241361_241362insT , LRG_778:g.241361_241362insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4359_4360insT
ENST00000682767.1:n.3475_3476insT
ENST00000316623.10:c.*1562_*1563insT MANE Select ENSP00000325527.5:n.*1562_*1563insT
ENST00000316623.9:c.*1562_*1563insT ENSP00000325527.5:n.*1562_*1563insT
NM_000138.4:c.*1562_*1563insT , LRG_778t1:c.*1562_*1563insT NP_000129.3:n.*1562_*1563insT
NM_000138.5:c.*1562_*1563insT MANE Select NP_000129.3:n.*1562_*1563insT
Search 100 bp 5'
Search 100 bp 3'