Canonical Allele Identifier: CA916082414

Gene: FBN1

Linked Data

• ClinVar Variation Id: 850747
• ClinVar RCV Id: RCV001054986
• dbSNP Id: rs2043116708

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441756_48441765del , CM000677.2:g.48441756_48441765del	GRCh38
NC_000015.9:g.48733953_48733962del , CM000677.1:g.48733953_48733962del	GRCh37
NC_000015.8:g.46521245_46521254del	NCBI36
NG_008805.2:g.209026_209035del , LRG_778:g.209026_209035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6121_6130del	ENSP00000453958.2:p.Pro2041PhefsTer15
ENST00000674301.2:c.6121_6130del	ENSP00000501333.2:p.Pro2041PhefsTer15
ENST00000316623.10:c.6121_6130del MANE Select	ENSP00000325527.5:p.Pro2041PhefsTer15
ENST00000674301.1:c.1120_1129del	ENSP00000501333.1:p.Pro374PhefsTer15
ENST00000316623.9:c.6121_6130del	ENSP00000325527.5:p.Pro2041PhefsTer15
ENST00000537463.6:c.*1884_*1893del	ENSP00000440294.2:n.*1884_*1893del
ENST00000559133.5:c.1428_1437del
ENST00000560820.1:n.241_250del
NM_000138.4:c.6121_6130del , LRG_778t1:c.6121_6130del	NP_000129.3:p.Pro2041PhefsTer15
NM_000138.5:c.6121_6130del MANE Select	NP_000129.3:p.Pro2041PhefsTer15