Canonical Allele Identifier: CA658656483

Gene: FBN1

Linked Data

• ClinVar Variation Id: 451806
• ClinVar RCV Id: RCV000521718
• dbSNP Id: rs1555397206
• MyVariant Identifiers: chr15:g.48760657_48760660del (hg19) ; chr15:g.48468460_48468463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468460_48468463del , CM000677.2:g.48468460_48468463del	GRCh38
NC_000015.9:g.48760657_48760660del , CM000677.1:g.48760657_48760660del	GRCh37
NC_000015.8:g.46547949_46547952del	NCBI36
NG_008805.2:g.182326_182329del , LRG_778:g.182326_182329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4531_4534del	ENSP00000453958.2:p.Cys1511ThrfsTer8
ENST00000674301.2:c.4531_4534del	ENSP00000501333.2:p.Cys1511ThrfsTer8
ENST00000684448.1:n.3205_3208del
ENST00000316623.10:c.4531_4534del MANE Select	ENSP00000325527.5:p.Cys1511ThrfsTer8
ENST00000316623.9:c.4531_4534del	ENSP00000325527.5:p.Cys1511ThrfsTer8
ENST00000537463.6:c.*294_*297del	ENSP00000440294.2:n.*294_*297del
NM_000138.4:c.4531_4534del , LRG_778t1:c.4531_4534del	NP_000129.3:p.Cys1511ThrfsTer8
NM_000138.5:c.4531_4534del MANE Select	NP_000129.3:p.Cys1511ThrfsTer8