Canonical Allele Identifier: CA2499222989

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1072761
• ClinVar RCV Id: RCV001385568
• dbSNP Id: rs2141272855

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468412_48468413del , CM000677.2:g.48468412_48468413del	GRCh38
NC_000015.9:g.48760609_48760610del , CM000677.1:g.48760609_48760610del	GRCh37
NC_000015.8:g.46547901_46547902del	NCBI36
NG_008805.2:g.182376_182377del , LRG_778:g.182376_182377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4581_4582del	ENSP00000453958.2:p.Asp1528TyrfsTer24
ENST00000674301.2:c.4581_4582del	ENSP00000501333.2:p.Asp1528TyrfsTer24
ENST00000684448.1:n.3255_3256del
ENST00000316623.10:c.4581_4582del MANE Select	ENSP00000325527.5:p.Asp1528TyrfsTer24
ENST00000316623.9:c.4581_4582del	ENSP00000325527.5:p.Asp1528TyrfsTer24
ENST00000537463.6:c.*344_*345del	ENSP00000440294.2:n.*344_*345del
NM_000138.4:c.4581_4582del , LRG_778t1:c.4581_4582del	NP_000129.3:p.Asp1528TyrfsTer24
NM_000138.5:c.4581_4582del MANE Select	NP_000129.3:p.Asp1528TyrfsTer24