Canonical Allele Identifier: CA013773

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36062
• ClinVar RCV Id: RCV000029722 ; RCV000035161 ; RCV000181401 ; RCV000467956 ; RCV001579674 ; RCV003924866
• dbSNP Id: rs193922196
• ExAC: 15:48782039 AC / A
• gnomAD v2: 15-48782039-AC-A
• gnomAD v3: 15-48489842-AC-A
• gnomAD v4: 15-48489842-AC-A
• MyVariant Identifiers: chr15:g.48782040del (hg19) ; chr15:g.48489843del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489843del , CM000677.2:g.48489843del	GRCh38
NC_000015.9:g.48782040del , CM000677.1:g.48782040del	GRCh37
NC_000015.8:g.46569332del	NCBI36
NG_008805.2:g.160946del , LRG_778:g.160946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3082+8del	ENSP00000453958.2:n.3082+8del
ENST00000674301.2:c.3082+8del	ENSP00000501333.2:n.3082+8del
ENST00000684448.1:n.1756+8del
ENST00000316623.10:c.3082+8del MANE Select	ENSP00000325527.5:n.3082+8del
ENST00000316623.9:c.3082+8del	ENSP00000325527.5:n.3082+8del
ENST00000537463.6:c.637-15193del	ENSP00000440294.2:n.637-15193del
NM_000138.4:c.3082+8del , LRG_778t1:c.3082+8del	NP_000129.3:n.3082+8del
NM_000138.5:c.3082+8del MANE Select	NP_000129.3:n.3082+8del