Canonical Allele Identifier: CA2528163339

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489892_48489893insCAAGGGAGAAAATCAAGATGAAAGTAAACAGTAATGAAAGAGGTATAATTAACACTGTCGCATAGTTATGGTAACGTCTCTGATAAAACTCGACGCTTCTAAAAAGATTAGG , CM000677.2:g.48489892_48489893insCAAGGGAGAAAATCAAGATGAAAGTAAACAGTAATGAAAGAGGTATAATTAACACTGTCGCATAGTTATGGTAACGTCTCTGATAAAACTCGACGCTTCTAAAAAGATTAGG	GRCh38
NC_000015.9:g.48782089_48782090insCAAGGGAGAAAATCAAGATGAAAGTAAACAGTAATGAAAGAGGTATAATTAACACTGTCGCATAGTTATGGTAACGTCTCTGATAAAACTCGACGCTTCTAAAAAGATTAGG , CM000677.1:g.48782089_48782090insCAAGGGAGAAAATCAAGATGAAAGTAAACAGTAATGAAAGAGGTATAATTAACACTGTCGCATAGTTATGGTAACGTCTCTGATAAAACTCGACGCTTCTAAAAAGATTAGG	GRCh37
NC_000015.8:g.46569381_46569382insCAAGGGAGAAAATCAAGATGAAAGTAAACAGTAATGAAAGAGGTATAATTAACACTGTCGCATAGTTATGGTAACGTCTCTGATAAAACTCGACGCTTCTAAAAAGATTAGG	NCBI36
NG_008805.2:g.160896_160897insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG , LRG_778:g.160896_160897insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3040_3041insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG	ENSP00000453958.2:p.Phe1014SerfsTer2
ENST00000674301.2:c.3040_3041insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG	ENSP00000501333.2:p.Phe1014SerfsTer2
ENST00000684448.1:n.1714_1715insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG
ENST00000316623.10:c.3040_3041insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG MANE Select	ENSP00000325527.5:p.Phe1014SerfsTer2
ENST00000316623.9:c.3040_3041insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG	ENSP00000325527.5:p.Phe1014SerfsTer2
ENST00000537463.6:c.637-15243_637-15242insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG	ENSP00000440294.2:n.637-15243_637-15242insCCTAATCTTTTTAGAAGCG...
NM_000138.4:c.3040_3041insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG , LRG_778t1:c.3040_3041insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG	NP_000129.3:p.Phe1014SerfsTer2
NM_000138.5:c.3040_3041insCCTAATCTTTTTAGAAGCGTCGAGTTTTATCAGAGACGTTACCATAACTATGCGACAGTGTTAATTATACCTCTTTCATTACTGTTTACTTTCATCTTGATTTTCTCCCTTG MANE Select	NP_000129.3:p.Phe1014SerfsTer2