Canonical Allele Identifier: CA2695220669
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485417_48485420del , CM000677.2:g.48485417_48485420del GRCh38
NC_000015.9:g.48777614_48777617del , CM000677.1:g.48777614_48777617del GRCh37
NC_000015.8:g.46564906_46564909del NCBI36
NG_008805.2:g.165370_165373del , LRG_778:g.165370_165373del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3667_3670del ENSP00000453958.2:p.Cys1223SerfsTer6
ENST00000674301.2:c.3667_3670del ENSP00000501333.2:p.Cys1223SerfsTer6
ENST00000684448.1:n.2341_2344del
ENST00000316623.10:c.3667_3670del MANE Select ENSP00000325527.5:p.Cys1223SerfsTer6
ENST00000316623.9:c.3667_3670del ENSP00000325527.5:p.Cys1223SerfsTer6
ENST00000537463.6:c.637-10769_637-10766del ENSP00000440294.2:n.637-10769_637-10766del
NM_000138.4:c.3667_3670del , LRG_778t1:c.3667_3670del NP_000129.3:p.Cys1223SerfsTer6
NM_000138.5:c.3667_3670del MANE Select NP_000129.3:p.Cys1223SerfsTer6
Search 100 bp 5'
Search 100 bp 3'