Canonical Allele Identifier: CA2628335330
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48497145-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48497146del , CM000677.2:g.48497146del GRCh38
NC_000015.9:g.48789343del , CM000677.1:g.48789343del GRCh37
NC_000015.8:g.46576635del NCBI36
NG_008805.2:g.153643del , LRG_778:g.153643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2293+120del ENSP00000453958.2:n.2293+120del
ENST00000674301.2:c.2293+120del ENSP00000501333.2:n.2293+120del
ENST00000684448.1:n.967+120del
ENST00000316623.10:c.2293+120del MANE Select ENSP00000325527.5:n.2293+120del
ENST00000316623.9:c.2293+120del ENSP00000325527.5:n.2293+120del
ENST00000537463.6:c.637-22496del ENSP00000440294.2:n.637-22496del
NM_000138.4:c.2293+120del , LRG_778t1:c.2293+120del NP_000129.3:n.2293+120del
NM_000138.5:c.2293+120del MANE Select NP_000129.3:n.2293+120del
Search 100 bp 5'
Search 100 bp 3'