Canonical Allele Identifier: CA2628324753

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410566-C-CAAAATT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410566_48410567insAAAATT , CM000677.2:g.48410566_48410567insAAAATT	GRCh38
NC_000015.9:g.48702763_48702764insAAAATT , CM000677.1:g.48702763_48702764insAAAATT	GRCh37
NC_000015.8:g.46490055_46490056insAAAATT	NCBI36
NG_008805.2:g.240222_240223insAATTTT , LRG_778:g.240222_240223insAATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1847_*1848insAATTTT	ENSP00000453958.2:n.*1847_*1848insAATTTT
ENST00000682158.1:n.2420_2421insAATTTT
ENST00000682170.1:n.3220_3221insAATTTT
ENST00000682767.1:n.2336_2337insAATTTT
ENST00000316623.10:c.*423_*424insAATTTT MANE Select	ENSP00000325527.5:n.*423_*424insAATTTT
ENST00000316623.9:c.*423_*424insAATTTT	ENSP00000325527.5:n.*423_*424insAATTTT
ENST00000559133.5:c.4408_4409insAATTTT
NM_000138.4:c.*423_*424insAATTTT , LRG_778t1:c.*423_*424insAATTTT	NP_000129.3:n.*423_*424insAATTTT
NM_000138.5:c.*423_*424insAATTTT MANE Select	NP_000129.3:n.*423_*424insAATTTT