Canonical Allele Identifier: CA2175521953

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490262_48490263delinsAC , CM000677.2:g.48490262_48490263delinsAC	GRCh38
NC_000015.9:g.48782459_48782460delinsAC , CM000677.1:g.48782459_48782460delinsAC	GRCh37
NC_000015.8:g.46569751_46569752delinsAC	NCBI36
NG_008805.2:g.160526_160527delinsGT , LRG_778:g.160526_160527delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2855-185_2855-184delinsGT	ENSP00000453958.2:n.2855-185_2855-184delinsGT
ENST00000674301.2:c.2855-185_2855-184delinsGT	ENSP00000501333.2:n.2855-185_2855-184delinsGT
ENST00000684448.1:n.1529-185_1529-184delinsGT
ENST00000316623.10:c.2855-185_2855-184delinsGT MANE Select	ENSP00000325527.5:n.2855-185_2855-184delinsGT
ENST00000316623.9:c.2855-185_2855-184delinsGT	ENSP00000325527.5:n.2855-185_2855-184delinsGT
ENST00000537463.6:c.637-15613_637-15612delinsGT	ENSP00000440294.2:n.637-15613_637-15612delinsGT
NM_000138.4:c.2855-185_2855-184delinsGT , LRG_778t1:c.2855-185_2855-184delinsGT	NP_000129.3:n.2855-185_2855-184delinsGT
NM_000138.5:c.2855-185_2855-184delinsGT MANE Select	NP_000129.3:n.2855-185_2855-184delinsGT