Canonical Allele Identifier: CA2628324927
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410786_48410787del , CM000677.2:g.48410786_48410787del GRCh38
NC_000015.9:g.48702983_48702984del , CM000677.1:g.48702983_48702984del GRCh37
NC_000015.8:g.46490275_46490276del NCBI36
NG_008805.2:g.240007_240008del , LRG_778:g.240007_240008del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1632_*1633del ENSP00000453958.2:n.*1632_*1633del
ENST00000682158.1:n.2205_2206del
ENST00000682170.1:n.3005_3006del
ENST00000682767.1:n.2121_2122del
ENST00000316623.10:c.*208_*209del MANE Select ENSP00000325527.5:n.*208_*209del
ENST00000316623.9:c.*208_*209del ENSP00000325527.5:n.*208_*209del
ENST00000559133.5:c.4193_4194del
NM_000138.4:c.*208_*209del , LRG_778t1:c.*208_*209del NP_000129.3:n.*208_*209del
NM_000138.5:c.*208_*209del MANE Select NP_000129.3:n.*208_*209del