Canonical Allele Identifier: CA2628331340

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428109-CAGCCAAGAAATTCCAAACAAGTGATTCAGGATCCAATTAGCAAAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428112_48428158del , CM000677.2:g.48428112_48428158del	GRCh38
NC_000015.9:g.48720309_48720355del , CM000677.1:g.48720309_48720355del	GRCh37
NC_000015.8:g.46507601_46507647del	NCBI36
NG_008805.2:g.222633_222679del , LRG_778:g.222633_222679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6997+190_6998-167del	ENSP00000453958.2:n.6997+190_6998-167del
ENST00000674301.2:c.*448+190_*449-167del	ENSP00000501333.2:n.*448+190_*449-167del
ENST00000682170.1:n.796_842del
ENST00000682767.1:n.232+190_233-167del
ENST00000316623.10:c.6997+190_6997+236del MANE Select	ENSP00000325527.5:n.6997+190_6997+236del
ENST00000674301.1:c.2101+190_2102-167del	ENSP00000501333.1:n.2101+190_2102-167del
ENST00000316623.9:c.6997+190_6997+236del	ENSP00000325527.5:n.6997+190_6997+236del
ENST00000559133.5:c.2304+190_2305-167del
ENST00000560720.1:n.474_520del
NM_000138.4:c.6997+190_6997+236del , LRG_778t1:c.6997+190_6997+236del	NP_000129.3:n.6997+190_6997+236del
NM_000138.5:c.6997+190_6997+236del MANE Select	NP_000129.3:n.6997+190_6997+236del