Canonical Allele Identifier: CA017763

Gene: FBN1

Linked Data

• ClinVar Variation Id: 178674
• ClinVar RCV Id: RCV000155431
• dbSNP Id: rs727504454
• MyVariant Identifiers: chr15:g.48703328_48703330del (hg19) ; chr15:g.48411131_48411133del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411131_48411133del , CM000677.2:g.48411131_48411133del	GRCh38
NC_000015.9:g.48703328_48703330del , CM000677.1:g.48703328_48703330del	GRCh37
NC_000015.8:g.46490620_46490622del	NCBI36
NG_008805.2:g.239656_239658del , LRG_778:g.239656_239658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1281_*1283del	ENSP00000453958.2:n.*1281_*1283del
ENST00000674301.2:c.*1986_*1988del	ENSP00000501333.2:n.*1986_*1988del
ENST00000682158.1:n.1854_1856del
ENST00000682170.1:n.2654_2656del
ENST00000682767.1:n.1770_1772del
ENST00000316623.10:c.8473_8475del MANE Select	ENSP00000325527.5:p.Gly2825del
ENST00000674301.1:c.3639_3641del	ENSP00000501333.1:n.3639_3641del
ENST00000316623.9:c.8473_8475del	ENSP00000325527.5:p.Gly2825del
ENST00000559133.5:c.3842_3844del
NM_000138.4:c.8473_8475del , LRG_778t1:c.8473_8475del	NP_000129.3:p.Gly2825del
NM_000138.5:c.8473_8475del MANE Select	NP_000129.3:p.Gly2825del