Canonical Allele Identifier: CA2573150770
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2141315683
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503807_48503808insT , CM000677.2:g.48503807_48503808insT GRCh38
NC_000015.9:g.48796004_48796005insT , CM000677.1:g.48796004_48796005insT GRCh37
NC_000015.8:g.46583296_46583297insT NCBI36
NG_008805.2:g.146981_146982insA , LRG_778:g.146981_146982insA

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2092_2093insA ENSP00000453958.2:p.Pro698HisfsTer26
ENST00000674301.2:c.2092_2093insA ENSP00000501333.2:p.Pro698HisfsTer26
ENST00000684448.1:n.766_767insA
ENST00000316623.10:c.2092_2093insA MANE Select ENSP00000325527.5:p.Pro698HisfsTer26
ENST00000316623.9:c.2092_2093insA ENSP00000325527.5:p.Pro698HisfsTer26
ENST00000537463.6:c.637-29158_637-29157insA ENSP00000440294.2:n.637-29158_637-29157in...
NM_000138.4:c.2092_2093insA , LRG_778t1:c.2092_2093insA NP_000129.3:p.Pro698HisfsTer26
NM_000138.5:c.2092_2093insA MANE Select NP_000129.3:p.Pro698HisfsTer26
Search 100 bp 5'
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