Canonical Allele Identifier: CA2556792713

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422253_48422254insCA , CM000677.2:g.48422253_48422254insCA	GRCh38
NC_000015.9:g.48714450_48714451insCA , CM000677.1:g.48714450_48714451insCA	GRCh37
NC_000015.8:g.46501742_46501743insCA	NCBI36
NG_008805.2:g.228536_228537insGT , LRG_778:g.228536_228537insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-185_*262-184insGT	ENSP00000453958.2:n.*262-185_*262-184insGT
ENST00000674301.2:c.*967-185_*967-184insGT	ENSP00000501333.2:n.*967-185_*967-184insGT
ENST00000682170.1:n.1635-185_1635-184insGT
ENST00000682767.1:n.751-185_751-184insGT
ENST00000316623.10:c.7454-185_7454-184insGT MANE Select	ENSP00000325527.5:n.7454-185_7454-184insGT
ENST00000674301.1:c.2620-185_2620-184insGT	ENSP00000501333.1:n.2620-185_2620-184insGT
ENST00000316623.9:c.7454-185_7454-184insGT	ENSP00000325527.5:n.7454-185_7454-184insGT
ENST00000559133.5:c.2823-185_2823-184insGT
NM_000138.4:c.7454-185_7454-184insGT , LRG_778t1:c.7454-185_7454-184insGT	NP_000129.3:n.7454-185_7454-184insGT
NM_000138.5:c.7454-185_7454-184insGT MANE Select	NP_000129.3:n.7454-185_7454-184insGT