Canonical Allele Identifier: CA353658

Gene: FBN1

Linked Data

• ClinVar Variation Id: 222621
• ClinVar RCV Id: RCV000208317
• dbSNP Id: rs869025422
• MyVariant Identifiers: chr15:g.48719859del (hg19) ; chr15:g.48427662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427663del , CM000677.2:g.48427663del	GRCh38
NC_000015.9:g.48719860del , CM000677.1:g.48719860del	GRCh37
NC_000015.8:g.46507152del	NCBI36
NG_008805.2:g.223127del , LRG_778:g.223127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7171del	ENSP00000453958.2:p.Ala2391LeufsTer6
ENST00000674301.2:c.*622del	ENSP00000501333.2:n.*622del
ENST00000682170.1:n.1290del
ENST00000682767.1:n.406del
ENST00000316623.10:c.7109del MANE Select	ENSP00000325527.5:p.Gly2370AlafsTer28
ENST00000674301.1:c.2275del	ENSP00000501333.1:n.2275del
ENST00000316623.9:c.7109del	ENSP00000325527.5:p.Gly2370AlafsTer28
ENST00000559133.5:c.2478del
NM_000138.4:c.7109del , LRG_778t1:c.7109del	NP_000129.3:p.Gly2370AlafsTer28
NM_000138.5:c.7109del MANE Select	NP_000129.3:p.Gly2370AlafsTer28