Canonical Allele Identifier: CA2175518205
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48467963_48467964delinsAC , CM000677.2:g.48467963_48467964delinsAC GRCh38
NC_000015.9:g.48760160_48760161delinsAC , CM000677.1:g.48760160_48760161delinsAC GRCh37
NC_000015.8:g.46547452_46547453delinsAC NCBI36
NG_008805.2:g.182825_182826delinsGT , LRG_778:g.182825_182826delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4721_4722delinsGT ENSP00000453958.2:p.Cys1574=
ENST00000674301.2:c.4721_4722delinsGT ENSP00000501333.2:p.Cys1574=
ENST00000684448.1:n.3395_3396delinsGT
ENST00000316623.10:c.4721_4722delinsGT MANE Select ENSP00000325527.5:p.Cys1574=
ENST00000316623.9:c.4721_4722delinsGT ENSP00000325527.5:p.Cys1574=
ENST00000537463.6:c.*484_*485delinsGT ENSP00000440294.2:n.*484_*485delinsGT
ENST00000559133.5:c.28_29delinsGT
NM_000138.4:c.4721_4722delinsGT , LRG_778t1:c.4721_4722delinsGT NP_000129.3:p.Cys1574=
NM_000138.5:c.4721_4722delinsGT MANE Select NP_000129.3:p.Cys1574=