Canonical Allele Identifier: CA2740096709
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2944079
ClinVar RCV Id: RCV003805829
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485459_48485461dup , CM000677.2:g.48485459_48485461dup GRCh38
NC_000015.9:g.48777656_48777658dup , CM000677.1:g.48777656_48777658dup GRCh37
NC_000015.8:g.46564948_46564950dup NCBI36
NG_008805.2:g.165328_165330dup , LRG_778:g.165328_165330dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3625_3627dup ENSP00000453958.2:p.Glu1209_Thr1210insGlu
ENST00000674301.2:c.3625_3627dup ENSP00000501333.2:p.Glu1209_Thr1210insGlu
ENST00000684448.1:n.2299_2301dup
ENST00000316623.10:c.3625_3627dup MANE Select ENSP00000325527.5:p.Glu1209_Thr1210insGlu
ENST00000316623.9:c.3625_3627dup ENSP00000325527.5:p.Glu1209_Thr1210insGlu
ENST00000537463.6:c.637-10811_637-10809dup ENSP00000440294.2:n.637-10811_637-10809dup
NM_000138.4:c.3625_3627dup , LRG_778t1:c.3625_3627dup NP_000129.3:p.Glu1209_Thr1210insGlu
NM_000138.5:c.3625_3627dup MANE Select NP_000129.3:p.Glu1209_Thr1210insGlu
Search 100 bp 5'
Search 100 bp 3'