Canonical Allele Identifier: CA017276

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200172
• ClinVar RCV Id: RCV000181676
• dbSNP Id: rs794728320
• MyVariant Identifiers: chr15:g.48713855del (hg19) ; chr15:g.48421658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421658del , CM000677.2:g.48421658del	GRCh38
NC_000015.9:g.48713855del , CM000677.1:g.48713855del	GRCh37
NC_000015.8:g.46501147del	NCBI36
NG_008805.2:g.229131del , LRG_778:g.229131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*407del	ENSP00000453958.2:n.*407del
ENST00000674301.2:c.*1112del	ENSP00000501333.2:n.*1112del
ENST00000682170.1:n.1780del
ENST00000682767.1:n.896del
ENST00000316623.10:c.7599del MANE Select	ENSP00000325527.5:p.Leu2534CysfsTer?
ENST00000674301.1:c.2765del	ENSP00000501333.1:n.2765del
ENST00000316623.9:c.7599del	ENSP00000325527.5:p.Leu2534CysfsTer?
ENST00000559133.5:c.2968del
NM_000138.4:c.7599del , LRG_778t1:c.7599del	NP_000129.3:p.Leu2534CysfsTer?
NM_000138.5:c.7599del MANE Select	NP_000129.3:p.Leu2534CysfsTer?