Canonical Allele Identifier: CA2175486083
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2042856044
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410984_48410991dup , CM000677.2:g.48410984_48410991dup GRCh38
NC_000015.9:g.48703181_48703188dup , CM000677.1:g.48703181_48703188dup GRCh37
NC_000015.8:g.46490473_46490480dup NCBI36
NG_008805.2:g.239799_239806dup , LRG_778:g.239799_239806dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1424_*1431dup ENSP00000453958.2:n.*1424_*1431dup
ENST00000682158.1:n.1997_2004dup
ENST00000682170.1:n.2797_2804dup
ENST00000682767.1:n.1913_1920dup
ENST00000316623.10:c.8616_*7dup MANE Select ENSP00000325527.5:n.8616_*7dup
ENST00000316623.9:c.8616_*7dup ENSP00000325527.5:n.8616_*7dup
ENST00000559133.5:c.3985_3992dup
NM_000138.4:c.8616_*7dup , LRG_778t1:c.8616_*7dup NP_000129.3:n.8616_*7dup
NM_000138.5:c.8616_*7dup MANE Select NP_000129.3:n.8616_*7dup
Search 100 bp 5'
Search 100 bp 3'