Canonical Allele Identifier: CA2573150775
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1453665
ClinVar RCV Id: RCV002037959
dbSNP Id: rs2141315799
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503846dup , CM000677.2:g.48503846dup GRCh38
NC_000015.9:g.48796043dup , CM000677.1:g.48796043dup GRCh37
NC_000015.8:g.46583335dup NCBI36
NG_008805.2:g.146943dup , LRG_778:g.146943dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2054dup ENSP00000453958.2:p.Cys685TrpfsTer5
ENST00000674301.2:c.2054dup ENSP00000501333.2:p.Cys685TrpfsTer5
ENST00000684448.1:n.728dup
ENST00000316623.10:c.2054dup MANE Select ENSP00000325527.5:p.Cys685TrpfsTer5
ENST00000316623.9:c.2054dup ENSP00000325527.5:p.Cys685TrpfsTer5
ENST00000537463.6:c.637-29196dup ENSP00000440294.2:n.637-29196dup
NM_000138.4:c.2054dup , LRG_778t1:c.2054dup NP_000129.3:p.Cys685TrpfsTer5
NM_000138.5:c.2054dup MANE Select NP_000129.3:p.Cys685TrpfsTer5
Search 100 bp 5'
Search 100 bp 3'