Canonical Allele Identifier: CA2740096648

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2941390
• ClinVar RCV Id: RCV003795092

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489880del , CM000677.2:g.48489880del	GRCh38
NC_000015.9:g.48782077del , CM000677.1:g.48782077del	GRCh37
NC_000015.8:g.46569369del	NCBI36
NG_008805.2:g.160911del , LRG_778:g.160911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3055del	ENSP00000453958.2:p.Ile1019LeufsTer16
ENST00000674301.2:c.3055del	ENSP00000501333.2:p.Ile1019LeufsTer16
ENST00000684448.1:n.1729del
ENST00000316623.10:c.3055del MANE Select	ENSP00000325527.5:p.Ile1019LeufsTer16
ENST00000316623.9:c.3055del	ENSP00000325527.5:p.Ile1019LeufsTer16
ENST00000537463.6:c.637-15228del	ENSP00000440294.2:n.637-15228del
NM_000138.4:c.3055del , LRG_778t1:c.3055del	NP_000129.3:p.Ile1019LeufsTer16
NM_000138.5:c.3055del MANE Select	NP_000129.3:p.Ile1019LeufsTer16