Canonical Allele Identifier: CA2573054042
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331485
ClinVar RCV Id: RCV001806829
dbSNP Id: rs2141305022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48496139dup , CM000677.2:g.48496139dup GRCh38
NC_000015.9:g.48788336dup , CM000677.1:g.48788336dup GRCh37
NC_000015.8:g.46575628dup NCBI36
NG_008805.2:g.154651dup , LRG_778:g.154651dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2381dup ENSP00000453958.2:p.Phe796IlefsTer6
ENST00000674301.2:c.2381dup ENSP00000501333.2:p.Phe796IlefsTer6
ENST00000684448.1:n.1055dup
ENST00000316623.10:c.2381dup MANE Select ENSP00000325527.5:p.Phe796IlefsTer6
ENST00000316623.9:c.2381dup ENSP00000325527.5:p.Phe796IlefsTer6
ENST00000537463.6:c.637-21488dup ENSP00000440294.2:n.637-21488dup
NM_000138.4:c.2381dup , LRG_778t1:c.2381dup NP_000129.3:p.Phe796IlefsTer6
NM_000138.5:c.2381dup MANE Select NP_000129.3:p.Phe796IlefsTer6
Search 100 bp 5'
Search 100 bp 3'