Canonical Allele Identifier: CA2175518216

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467984_48467985delinsAC , CM000677.2:g.48467984_48467985delinsAC	GRCh38
NC_000015.9:g.48760181_48760182delinsAC , CM000677.1:g.48760181_48760182delinsAC	GRCh37
NC_000015.8:g.46547473_46547474delinsAC	NCBI36
NG_008805.2:g.182804_182805delinsGT , LRG_778:g.182804_182805delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4700_4701delinsGT	ENSP00000453958.2:p.Gly1567=
ENST00000674301.2:c.4700_4701delinsGT	ENSP00000501333.2:p.Gly1567=
ENST00000684448.1:n.3374_3375delinsGT
ENST00000316623.10:c.4700_4701delinsGT MANE Select	ENSP00000325527.5:p.Gly1567=
ENST00000316623.9:c.4700_4701delinsGT	ENSP00000325527.5:p.Gly1567=
ENST00000537463.6:c.*463_*464delinsGT	ENSP00000440294.2:n.*463_*464delinsGT
ENST00000559133.5:c.7_8delinsGT
NM_000138.4:c.4700_4701delinsGT , LRG_778t1:c.4700_4701delinsGT	NP_000129.3:p.Gly1567=
NM_000138.5:c.4700_4701delinsGT MANE Select	NP_000129.3:p.Gly1567=