Canonical Allele Identifier: CA658824889

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549287
• ClinVar RCV Id: RCV000663796
• dbSNP Id: rs1555401701
• MyVariant Identifiers: chr15:g.48829988_48829990del (hg19) ; chr15:g.48537791_48537793del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537791_48537793del , CM000677.2:g.48537791_48537793del	GRCh38
NC_000015.9:g.48829988_48829990del , CM000677.1:g.48829988_48829990del	GRCh37
NC_000015.8:g.46617280_46617282del	NCBI36
NG_008805.2:g.112996_112998del , LRG_778:g.112996_112998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.554_556del	ENSP00000453958.2:p.Pro185_Cys186delinsArg
ENST00000674301.2:c.554_556del	ENSP00000501333.2:p.Pro185_Cys186delinsArg
ENST00000316623.10:c.554_556del MANE Select	ENSP00000325527.5:p.Pro185_Cys186delinsArg
ENST00000316623.9:c.554_556del	ENSP00000325527.5:p.Pro185_Cys186delinsArg
ENST00000537463.6:c.554_556del	ENSP00000440294.2:p.Pro185_Cys186delinsArg
NM_000138.4:c.554_556del , LRG_778t1:c.554_556del	NP_000129.3:p.Pro185_Cys186delinsArg
NM_000138.5:c.554_556del MANE Select	NP_000129.3:p.Pro185_Cys186delinsArg