Canonical Allele Identifier: CA2628334531
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474679del , CM000677.2:g.48474679del GRCh38
NC_000015.9:g.48766876del , CM000677.1:g.48766876del GRCh37
NC_000015.8:g.46554168del NCBI36
NG_008805.2:g.176114del , LRG_778:g.176114del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3965-25del ENSP00000453958.2:n.3965-25del
ENST00000674301.2:c.3965-25del ENSP00000501333.2:n.3965-25del
ENST00000684448.1:n.2639-25del
ENST00000316623.10:c.3965-25del MANE Select ENSP00000325527.5:n.3965-25del
ENST00000316623.9:c.3965-25del ENSP00000325527.5:n.3965-25del
ENST00000537463.6:c.637-25del ENSP00000440294.2:n.637-25del
NM_000138.4:c.3965-25del , LRG_778t1:c.3965-25del NP_000129.3:n.3965-25del
NM_000138.5:c.3965-25del MANE Select NP_000129.3:n.3965-25del