Canonical Allele Identifier: CA015290

Gene: FBN1

Linked Data

• ClinVar Variation Id: 163474
• ClinVar RCV Id: RCV000150699
• dbSNP Id: rs727503056
• MyVariant Identifiers: chr15:g.48760164_48760207del (hg19) ; chr15:g.48467967_48468010del (hg38)
• PubMed: PMID:12068374 ; PMID:12525539

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467970_48468013del , CM000677.2:g.48467970_48468013del	GRCh38
NC_000015.9:g.48760167_48760210del , CM000677.1:g.48760167_48760210del	GRCh37
NC_000015.8:g.46547459_46547502del	NCBI36
NG_008805.2:g.182779_182822del , LRG_778:g.182779_182822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4675_4718del	ENSP00000453958.2:p.Lys1559LeufsTer2
ENST00000674301.2:c.4675_4718del	ENSP00000501333.2:p.Lys1559LeufsTer2
ENST00000684448.1:n.3349_3392del
ENST00000316623.10:c.4675_4718del MANE Select	ENSP00000325527.5:p.Lys1559LeufsTer2
ENST00000316623.9:c.4675_4718del	ENSP00000325527.5:p.Lys1559LeufsTer2
ENST00000537463.6:c.*438_*481del	ENSP00000440294.2:n.*438_*481del
NM_000138.4:c.4675_4718del , LRG_778t1:c.4675_4718del	NP_000129.3:p.Lys1559LeufsTer2
NM_000138.5:c.4675_4718del MANE Select	NP_000129.3:p.Lys1559LeufsTer2