Canonical Allele Identifier: CA658683896

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495612
• ClinVar RCV Id: RCV000586831
• dbSNP Id: rs1555397173
• MyVariant Identifiers: chr15:g.48760275del (hg19) ; chr15:g.48468078del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468080del , CM000677.2:g.48468080del	GRCh38
NC_000015.9:g.48760277del , CM000677.1:g.48760277del	GRCh37
NC_000015.8:g.46547569del	NCBI36
NG_008805.2:g.182711del , LRG_778:g.182711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4607del	ENSP00000453958.2:p.Leu1536TrpfsTer?
ENST00000674301.2:c.4607del	ENSP00000501333.2:p.Leu1536TrpfsTer?
ENST00000684448.1:n.3281del
ENST00000316623.10:c.4607del MANE Select	ENSP00000325527.5:p.Leu1536TrpfsTer?
ENST00000316623.9:c.4607del	ENSP00000325527.5:p.Leu1536TrpfsTer?
ENST00000537463.6:c.*370del	ENSP00000440294.2:n.*370del
NM_000138.4:c.4607del , LRG_778t1:c.4607del	NP_000129.3:p.Leu1536TrpfsTer?
NM_000138.5:c.4607del MANE Select	NP_000129.3:p.Leu1536TrpfsTer?