Canonical Allele Identifier: CA2740096571

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2942657
• ClinVar RCV Id: RCV003807823

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430760_48430763del , CM000677.2:g.48430760_48430763del	GRCh38
NC_000015.9:g.48722957_48722960del , CM000677.1:g.48722957_48722960del	GRCh37
NC_000015.8:g.46510249_46510252del	NCBI36
NG_008805.2:g.220027_220030del , LRG_778:g.220027_220030del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6780_6783del	ENSP00000453958.2:p.Glu2260AspfsTer30
ENST00000674301.2:c.*231_*234del	ENSP00000501333.2:n.*231_*234del
ENST00000682170.1:n.389_392del
ENST00000316623.10:c.6780_6783del MANE Select	ENSP00000325527.5:p.Glu2260AspfsTer30
ENST00000674301.1:c.1884_1887del	ENSP00000501333.1:n.1884_1887del
ENST00000316623.9:c.6780_6783del	ENSP00000325527.5:p.Glu2260AspfsTer30
ENST00000559133.5:c.2087_2090del
ENST00000560720.1:n.67_70del
NM_000138.4:c.6780_6783del , LRG_778t1:c.6780_6783del	NP_000129.3:p.Glu2260AspfsTer30
NM_000138.5:c.6780_6783del MANE Select	NP_000129.3:p.Glu2260AspfsTer30