Canonical Allele Identifier: CA2628331161
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428040_48428043dup , CM000677.2:g.48428040_48428043dup GRCh38
NC_000015.9:g.48720237_48720240dup , CM000677.1:g.48720237_48720240dup GRCh37
NC_000015.8:g.46507529_46507532dup NCBI36
NG_008805.2:g.222747_222750dup , LRG_778:g.222747_222750dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6998-99_6998-96dup ENSP00000453958.2:n.6998-99_6998-96dup
ENST00000674301.2:c.*449-99_*449-96dup ENSP00000501333.2:n.*449-99_*449-96dup
ENST00000682170.1:n.910_913dup
ENST00000682767.1:n.233-99_233-96dup
ENST00000316623.10:c.6998-269_6998-266dup MANE Select ENSP00000325527.5:n.6998-269_6998-266dup
ENST00000674301.1:c.2102-99_2102-96dup ENSP00000501333.1:n.2102-99_2102-96dup
ENST00000316623.9:c.6998-269_6998-266dup ENSP00000325527.5:n.6998-269_6998-266dup
ENST00000559133.5:c.2305-99_2305-96dup
ENST00000560720.1:n.588_591dup
NM_000138.4:c.6998-269_6998-266dup , LRG_778t1:c.6998-269_6998-266dup NP_000129.3:n.6998-269_6998-266dup
NM_000138.5:c.6998-269_6998-266dup MANE Select NP_000129.3:n.6998-269_6998-266dup