Canonical Allele Identifier: CA2175492326

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445387_48445388delinsCT , CM000677.2:g.48445387_48445388delinsCT	GRCh38
NC_000015.9:g.48737584_48737585delinsCT , CM000677.1:g.48737584_48737585delinsCT	GRCh37
NC_000015.8:g.46524876_46524877delinsCT	NCBI36
NG_008805.2:g.205401_205402delinsAG , LRG_778:g.205401_205402delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5905_5906delinsAG	ENSP00000453958.2:p.Arg1969=
ENST00000674301.2:c.5905_5906delinsAG	ENSP00000501333.2:p.Arg1969=
ENST00000684448.1:n.4579_4580delinsAG
ENST00000316623.10:c.5905_5906delinsAG MANE Select	ENSP00000325527.5:p.Arg1969=
ENST00000674301.1:c.904_905delinsAG	ENSP00000501333.1:p.Arg302=
ENST00000316623.9:c.5905_5906delinsAG	ENSP00000325527.5:p.Arg1969=
ENST00000537463.6:c.*1668_*1669delinsAG	ENSP00000440294.2:n.*1668_*1669delinsAG
ENST00000559133.5:c.1212_1213delinsAG
ENST00000560820.1:n.25_26delinsAG
NM_000138.4:c.5905_5906delinsAG , LRG_778t1:c.5905_5906delinsAG	NP_000129.3:p.Arg1969=
NM_000138.5:c.5905_5906delinsAG MANE Select	NP_000129.3:p.Arg1969=