Canonical Allele Identifier: CA2695220412
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48495145del , CM000677.2:g.48495145del GRCh38
NC_000015.9:g.48787342del , CM000677.1:g.48787342del GRCh37
NC_000015.8:g.46574634del NCBI36
NG_008805.2:g.155646del , LRG_778:g.155646del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2657del ENSP00000453958.2:p.Pro886ArgfsTer26
ENST00000674301.2:c.2657del ENSP00000501333.2:p.Pro886ArgfsTer26
ENST00000684448.1:n.1331del
ENST00000316623.10:c.2657del MANE Select ENSP00000325527.5:p.Pro886ArgfsTer26
ENST00000316623.9:c.2657del ENSP00000325527.5:p.Pro886ArgfsTer26
ENST00000537463.6:c.637-20493del ENSP00000440294.2:n.637-20493del
NM_000138.4:c.2657del , LRG_778t1:c.2657del NP_000129.3:p.Pro886ArgfsTer26
NM_000138.5:c.2657del MANE Select NP_000129.3:p.Pro886ArgfsTer26
Search 100 bp 5'
Search 100 bp 3'