Canonical Allele Identifier: CA2628331693

Gene: FBN1

Linked Data

• gnomAD v4: 15-48490222-A-ACT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490222_48490223insCT , CM000677.2:g.48490222_48490223insCT	GRCh38
NC_000015.9:g.48782419_48782420insCT , CM000677.1:g.48782419_48782420insCT	GRCh37
NC_000015.8:g.46569711_46569712insCT	NCBI36
NG_008805.2:g.160566_160567insAG , LRG_778:g.160566_160567insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2855-145_2855-144insAG	ENSP00000453958.2:n.2855-145_2855-144insAG
ENST00000674301.2:c.2855-145_2855-144insAG	ENSP00000501333.2:n.2855-145_2855-144insAG
ENST00000684448.1:n.1529-145_1529-144insAG
ENST00000316623.10:c.2855-145_2855-144insAG MANE Select	ENSP00000325527.5:n.2855-145_2855-144insAG
ENST00000316623.9:c.2855-145_2855-144insAG	ENSP00000325527.5:n.2855-145_2855-144insAG
ENST00000537463.6:c.637-15573_637-15572insAG	ENSP00000440294.2:n.637-15573_637-15572insAG
NM_000138.4:c.2855-145_2855-144insAG , LRG_778t1:c.2855-145_2855-144insAG	NP_000129.3:n.2855-145_2855-144insAG
NM_000138.5:c.2855-145_2855-144insAG MANE Select	NP_000129.3:n.2855-145_2855-144insAG