Canonical Allele Identifier: CA2804071445
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474600_48474601insGC , CM000677.2:g.48474600_48474601insGC GRCh38
NC_000015.9:g.48766797_48766798insGC , CM000677.1:g.48766797_48766798insGC GRCh37
NC_000015.8:g.46554089_46554090insGC NCBI36
NG_008805.2:g.176188_176189insGC , LRG_778:g.176188_176189insGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4014_4015insGC ENSP00000453958.2:p.Cys1339AlafsTer?
ENST00000674301.2:c.4014_4015insGC ENSP00000501333.2:p.Cys1339AlafsTer?
ENST00000684448.1:n.2688_2689insGC
ENST00000316623.10:c.4014_4015insGC MANE Select ENSP00000325527.5:p.Cys1339AlafsTer?
ENST00000316623.9:c.4014_4015insGC ENSP00000325527.5:p.Cys1339AlafsTer?
ENST00000537463.6:c.686_687insGC ENSP00000440294.2:p.Tyr229Ter
NM_000138.4:c.4014_4015insGC , LRG_778t1:c.4014_4015insGC NP_000129.3:p.Cys1339AlafsTer?
NM_000138.5:c.4014_4015insGC MANE Select NP_000129.3:p.Cys1339AlafsTer?
Search 100 bp 5'
Search 100 bp 3'