Canonical Allele Identifier: CA2628330247
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487508dup , CM000677.2:g.48487508dup GRCh38
NC_000015.9:g.48779705dup , CM000677.1:g.48779705dup GRCh37
NC_000015.8:g.46566997dup NCBI36
NG_008805.2:g.163285dup , LRG_778:g.163285dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3338-67dup ENSP00000453958.2:n.3338-67dup
ENST00000674301.2:c.3338-67dup ENSP00000501333.2:n.3338-67dup
ENST00000684448.1:n.2012-67dup
ENST00000316623.10:c.3338-67dup MANE Select ENSP00000325527.5:n.3338-67dup
ENST00000316623.9:c.3338-67dup ENSP00000325527.5:n.3338-67dup
ENST00000537463.6:c.637-12854dup ENSP00000440294.2:n.637-12854dup
NM_000138.4:c.3338-67dup , LRG_778t1:c.3338-67dup NP_000129.3:n.3338-67dup
NM_000138.5:c.3338-67dup MANE Select NP_000129.3:n.3338-67dup