Canonical Allele Identifier: CA2628324552
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410073-TA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410076del , CM000677.2:g.48410076del GRCh38
NC_000015.9:g.48702273del , CM000677.1:g.48702273del GRCh37
NC_000015.8:g.46489565del NCBI36
NG_008805.2:g.240715del , LRG_778:g.240715del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*2340del ENSP00000453958.2:n.*2340del
ENST00000682170.1:n.3713del
ENST00000682767.1:n.2829del
ENST00000316623.10:c.*916del MANE Select ENSP00000325527.5:n.*916del
ENST00000316623.9:c.*916del ENSP00000325527.5:n.*916del
ENST00000559133.5:c.4901del
NM_000138.4:c.*916del , LRG_778t1:c.*916del NP_000129.3:n.*916del
NM_000138.5:c.*916del MANE Select NP_000129.3:n.*916del
Search 100 bp 5'
Search 100 bp 3'