Canonical Allele Identifier: CA2695220216
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48425439_48425440del , CM000677.2:g.48425439_48425440del GRCh38
NC_000015.9:g.48717636_48717637del , CM000677.1:g.48717636_48717637del GRCh37
NC_000015.8:g.46504928_46504929del NCBI36
NG_008805.2:g.225352_225353del , LRG_778:g.225352_225353del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*193_*194del ENSP00000453958.2:n.*193_*194del
ENST00000674301.2:c.*898_*899del ENSP00000501333.2:n.*898_*899del
ENST00000682170.1:n.1566_1567del
ENST00000682767.1:n.682_683del
ENST00000316623.10:c.7385_7386del MANE Select ENSP00000325527.5:p.Thr2462ArgfsTer25
ENST00000674301.1:c.2551_2552del ENSP00000501333.1:n.2551_2552del
ENST00000316623.9:c.7385_7386del ENSP00000325527.5:p.Thr2462ArgfsTer25
ENST00000559133.5:c.2754_2755del
NM_000138.4:c.7385_7386del , LRG_778t1:c.7385_7386del NP_000129.3:p.Thr2462ArgfsTer25
NM_000138.5:c.7385_7386del MANE Select NP_000129.3:p.Thr2462ArgfsTer25
Search 100 bp 5'
Search 100 bp 3'