Canonical Allele Identifier: CA2628334162
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48472457-TTAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472458_48472460del , CM000677.2:g.48472458_48472460del GRCh38
NC_000015.9:g.48764655_48764657del , CM000677.1:g.48764655_48764657del GRCh37
NC_000015.8:g.46551947_46551949del NCBI36
NG_008805.2:g.178329_178331del , LRG_778:g.178329_178331del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4336+91_4336+93del ENSP00000453958.2:n.4336+91_4336+93del
ENST00000674301.2:c.4336+91_4336+93del ENSP00000501333.2:n.4336+91_4336+93del
ENST00000683268.1:n.303+91_303+93del
ENST00000684448.1:n.3010+91_3010+93del
ENST00000316623.10:c.4336+91_4336+93del MANE Select ENSP00000325527.5:n.4336+91_4336+93del
ENST00000316623.9:c.4336+91_4336+93del ENSP00000325527.5:n.4336+91_4336+93del
ENST00000537463.6:c.*99+91_*99+93del ENSP00000440294.2:n.*99+91_*99+93del
NM_000138.4:c.4336+91_4336+93del , LRG_778t1:c.4336+91_4336+93del NP_000129.3:n.4336+91_4336+93del
NM_000138.5:c.4336+91_4336+93del MANE Select NP_000129.3:n.4336+91_4336+93del
Search 100 bp 5'
Search 100 bp 3'