Canonical Allele Identifier: CA16043495
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374115
ClinVar RCV Id: RCV000415067
dbSNP Id: rs1057518909

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48534101_48534104del , CM000677.2:g.48534101_48534104del GRCh38
NC_000015.9:g.48826298_48826301del , CM000677.1:g.48826298_48826301del GRCh37
NC_000015.8:g.46613590_46613593del NCBI36
NG_008805.2:g.116687_116690del , LRG_778:g.116687_116690del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.840_843del ENSP00000453958.2:p.Asn280LysfsTer?
ENST00000674301.2:c.840_843del ENSP00000501333.2:p.Asn280LysfsTer?
ENST00000316623.10:c.840_843del MANE Select ENSP00000325527.5:p.Asn280LysfsTer?
ENST00000316623.9:c.840_843del ENSP00000325527.5:p.Asn280LysfsTer?
ENST00000537463.6:c.636+3609_636+3612del ENSP00000440294.2:n.636+3609_636+3612del
NM_000138.4:c.840_843del , LRG_778t1:c.840_843del NP_000129.3:p.Asn280LysfsTer?
NM_000138.5:c.840_843del MANE Select NP_000129.3:p.Asn280LysfsTer?