Canonical Allele Identifier: CA2628324758
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410578-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410580del , CM000677.2:g.48410580del GRCh38
NC_000015.9:g.48702777del , CM000677.1:g.48702777del GRCh37
NC_000015.8:g.46490069del NCBI36
NG_008805.2:g.240210del , LRG_778:g.240210del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1835del ENSP00000453958.2:n.*1835del
ENST00000682158.1:n.2408del
ENST00000682170.1:n.3208del
ENST00000682767.1:n.2324del
ENST00000316623.10:c.*411del MANE Select ENSP00000325527.5:n.*411del
ENST00000316623.9:c.*411del ENSP00000325527.5:n.*411del
ENST00000559133.5:c.4396del
NM_000138.4:c.*411del , LRG_778t1:c.*411del NP_000129.3:n.*411del
NM_000138.5:c.*411del MANE Select NP_000129.3:n.*411del
Search 100 bp 5'
Search 100 bp 3'