Canonical Allele Identifier: CA2175518232
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468016_48468020delinsCACCA , CM000677.2:g.48468016_48468020delinsCACCA GRCh38
NC_000015.9:g.48760213_48760217delinsCACCA , CM000677.1:g.48760213_48760217delinsCACCA GRCh37
NC_000015.8:g.46547505_46547509delinsCACCA NCBI36
NG_008805.2:g.182769_182773delinsTGGTG , LRG_778:g.182769_182773delinsTGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4665_4669delinsTGGTG ENSP00000453958.2:p.Val1555=
ENST00000674301.2:c.4665_4669delinsTGGTG ENSP00000501333.2:p.Val1555=
ENST00000684448.1:n.3339_3343delinsTGGTG
ENST00000316623.10:c.4665_4669delinsTGGTG MANE Select ENSP00000325527.5:p.Val1555=
ENST00000316623.9:c.4665_4669delinsTGGTG ENSP00000325527.5:p.Val1555=
ENST00000537463.6:c.*428_*432delinsTGGTG ENSP00000440294.2:n.*428_*432delinsTGGTG
NM_000138.4:c.4665_4669delinsTGGTG , LRG_778t1:c.4665_4669delinsTGGTG NP_000129.3:p.Val1555=
NM_000138.5:c.4665_4669delinsTGGTG MANE Select NP_000129.3:p.Val1555=