Canonical Allele Identifier: CA16614431

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406330
• ClinVar RCV Id: RCV000463636 ; RCV001390930
• dbSNP Id: rs1555397663
• MyVariant Identifiers: chr15:g.48766517dupT (hg19) ; chr15:g.48766516_48766517insT (hg19) ; chr15:g.48474320dupT (hg38) ; chr15:g.48474319_48474320insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474321dup , CM000677.2:g.48474321dup	GRCh38
NC_000015.9:g.48766518dup , CM000677.1:g.48766518dup	GRCh37
NC_000015.8:g.46553810dup	NCBI36
NG_008805.2:g.176469dup , LRG_778:g.176469dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4145dup	ENSP00000453958.2:p.Asn1382LysfsTer17
ENST00000674301.2:c.4145dup	ENSP00000501333.2:p.Asn1382LysfsTer17
ENST00000684448.1:n.2819dup
ENST00000316623.10:c.4145dup MANE Select	ENSP00000325527.5:p.Asn1382LysfsTer17
ENST00000316623.9:c.4145dup	ENSP00000325527.5:p.Asn1382LysfsTer17
ENST00000537463.6:c.817dup	ENSP00000440294.2:p.Ile273AsnfsTer?
NM_000138.4:c.4145dup , LRG_778t1:c.4145dup	NP_000129.3:p.Asn1382LysfsTer17
NM_000138.5:c.4145dup MANE Select	NP_000129.3:p.Asn1382LysfsTer17