Canonical Allele Identifier: CA017840

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42447
• ClinVar RCV Id: RCV000035293
• dbSNP Id: rs397515866
• MyVariant Identifiers: chr15:g.48703197_48703198del (hg19) ; chr15:g.48411000_48411001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411002_48411003del , CM000677.2:g.48411002_48411003del	GRCh38
NC_000015.9:g.48703199_48703200del , CM000677.1:g.48703199_48703200del	GRCh37
NC_000015.8:g.46490491_46490492del	NCBI36
NG_008805.2:g.239788_239789del , LRG_778:g.239788_239789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1413_*1414del	ENSP00000453958.2:n.*1413_*1414del
ENST00000682158.1:n.1986_1987del
ENST00000682170.1:n.2786_2787del
ENST00000682767.1:n.1902_1903del
ENST00000316623.10:c.8605_8606del MANE Select	ENSP00000325527.5:p.Leu2869AlafsTer11
ENST00000316623.9:c.8605_8606del	ENSP00000325527.5:p.Leu2869AlafsTer11
ENST00000559133.5:c.3974_3975del
NM_000138.4:c.8605_8606del , LRG_778t1:c.8605_8606del	NP_000129.3:p.Leu2869AlafsTer11
NM_000138.5:c.8605_8606del MANE Select	NP_000129.3:p.Leu2869AlafsTer11