Canonical Allele Identifier: CA2628331763

Gene: FBN1

Linked Data

• gnomAD v4: 15-48492352-GGAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492354_48492357del , CM000677.2:g.48492354_48492357del	GRCh38
NC_000015.9:g.48784551_48784554del , CM000677.1:g.48784551_48784554del	GRCh37
NC_000015.8:g.46571843_46571846del	NCBI36
NG_008805.2:g.158433_158436del , LRG_778:g.158433_158436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+105_2854+108del	ENSP00000453958.2:n.2854+105_2854+108del
ENST00000674301.2:c.2854+105_2854+108del	ENSP00000501333.2:n.2854+105_2854+108del
ENST00000684448.1:n.1528+105_1528+108del
ENST00000316623.10:c.2854+105_2854+108del MANE Select	ENSP00000325527.5:n.2854+105_2854+108del
ENST00000316623.9:c.2854+105_2854+108del	ENSP00000325527.5:n.2854+105_2854+108del
ENST00000537463.6:c.637-17706_637-17703del	ENSP00000440294.2:n.637-17706_637-17703del
NM_000138.4:c.2854+105_2854+108del , LRG_778t1:c.2854+105_2854+108del	NP_000129.3:n.2854+105_2854+108del
NM_000138.5:c.2854+105_2854+108del MANE Select	NP_000129.3:n.2854+105_2854+108del