Canonical Allele Identifier: CA2175573492
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2044649377

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48610684_48610685insGTTACTATGAATAGT , CM000677.2:g.48610684_48610685insGTTACTATGAATAGT GRCh38
NC_000015.9:g.48902881_48902882insGTTACTATGAATAGT , CM000677.1:g.48902881_48902882insGTTACTATGAATAGT GRCh37
NC_000015.8:g.46690173_46690174insGTTACTATGAATAGT NCBI36
NG_008805.2:g.40104_40105insACTATTCATAGTAAC , LRG_778:g.40104_40105insACTATTCATAGTAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.346+43_346+44insACTATTCATAGTAAC ENSP00000453958.2:n.346+43_346+44insACTATTCATAGTAAC
ENST00000674301.2:c.346+43_346+44insACTATTCATAGTAAC ENSP00000501333.2:n.346+43_346+44insACTATTCATAGTAAC
ENST00000316623.10:c.346+43_346+44insACTATTCATAGTAAC MANE Select ENSP00000325527.5:n.346+43_346+44insACTATTCATAGTAAC
ENST00000316623.9:c.346+43_346+44insACTATTCATAGTAAC ENSP00000325527.5:n.346+43_346+44insACTATTCATAGTAAC
ENST00000537463.6:c.346+43_346+44insACTATTCATAGTAAC ENSP00000440294.2:n.346+43_346+44insACTATTCATAGTAAC
NM_000138.4:c.346+43_346+44insACTATTCATAGTAAC , LRG_778t1:c.346+43_346+44insACTATTCATAGTAAC NP_000129.3:n.346+43_346+44insACTATTCATAGTAAC
NM_000138.5:c.346+43_346+44insACTATTCATAGTAAC MANE Select NP_000129.3:n.346+43_346+44insACTATTCATAGTAAC