Canonical Allele Identifier: CA2628324994
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410888-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410891del , CM000677.2:g.48410891del GRCh38
NC_000015.9:g.48703088del , CM000677.1:g.48703088del GRCh37
NC_000015.8:g.46490380del NCBI36
NG_008805.2:g.239900del , LRG_778:g.239900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1525del ENSP00000453958.2:n.*1525del
ENST00000682158.1:n.2098del
ENST00000682170.1:n.2898del
ENST00000682767.1:n.2014del
ENST00000316623.10:c.*101del MANE Select ENSP00000325527.5:n.*101del
ENST00000316623.9:c.*101del ENSP00000325527.5:n.*101del
ENST00000559133.5:c.4086del
NM_000138.4:c.*101del , LRG_778t1:c.*101del NP_000129.3:n.*101del
NM_000138.5:c.*101del MANE Select NP_000129.3:n.*101del
Search 100 bp 5'
Search 100 bp 3'