Canonical Allele Identifier: CA2628336744
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520964_48520965insACTGTTCCTGTGCAGC , CM000677.2:g.48520964_48520965insACTGTTCCTGTGCAGC GRCh38
NC_000015.9:g.48813161_48813162insACTGTTCCTGTGCAGC , CM000677.1:g.48813161_48813162insACTGTTCCTGTGCAGC GRCh37
NC_000015.8:g.46600453_46600454insACTGTTCCTGTGCAGC NCBI36
NG_008805.2:g.129827_129828insGCACAGGAACAGTGCT , LRG_778:g.129827_129828insGCACAGGAACAGTGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.989-145_989-144insGCACAGGAACAGTGCT ENSP00000453958.2:n.989-145_989-144insGCACAGGAACAGTGCT
ENST00000674301.2:c.989-145_989-144insGCACAGGAACAGTGCT ENSP00000501333.2:n.989-145_989-144insGCACAGGAACAGTGCT
ENST00000316623.10:c.989-145_989-144insGCACAGGAACAGTGCT MANE Select ENSP00000325527.5:n.989-145_989-144insGCACAGGAACAGTGCT
ENST00000316623.9:c.989-145_989-144insGCACAGGAACAGTGCT ENSP00000325527.5:n.989-145_989-144insGCACAGGAACAGTGCT
ENST00000537463.6:c.636+16749_636+16750insGCACAGGAACAGTGCT ENSP00000440294.2:n.636+16749_636+16750insGCACAGGAACAGTGCT
NM_000138.4:c.989-145_989-144insGCACAGGAACAGTGCT , LRG_778t1:c.989-145_989-144insGCACAGGAACAGTGCT NP_000129.3:n.989-145_989-144insGCACAGGAACAGTGCT
NM_000138.5:c.989-145_989-144insGCACAGGAACAGTGCT MANE Select NP_000129.3:n.989-145_989-144insGCACAGGAACAGTGCT