Canonical Allele Identifier: CA051044
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487138del , CM000677.2:g.48487138del GRCh38
NC_000015.9:g.48779335del , CM000677.1:g.48779335del GRCh37
NC_000015.8:g.46566627del NCBI36
NG_008805.2:g.163653del , LRG_778:g.163653del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3528del ENSP00000453958.2:p.Lys1177SerfsTer27
ENST00000674301.2:c.3528del ENSP00000501333.2:p.Lys1177SerfsTer27
ENST00000684448.1:n.2202del
ENST00000316623.10:c.3528del MANE Select ENSP00000325527.5:p.Lys1177SerfsTer27
ENST00000316623.9:c.3528del ENSP00000325527.5:p.Lys1177SerfsTer27
ENST00000537463.6:c.637-12486del ENSP00000440294.2:n.637-12486del
NM_000138.4:c.3528del , LRG_778t1:c.3528del NP_000129.3:p.Lys1177SerfsTer27
NM_000138.5:c.3528del MANE Select NP_000129.3:p.Lys1177SerfsTer27
Search 100 bp 5'
Search 100 bp 3'