Canonical Allele Identifier: CA891843842
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 571557
ClinVar RCV Id: RCV000692734
dbSNP Id: rs1566910251

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489859_48489860insT , CM000677.2:g.48489859_48489860insT GRCh38
NC_000015.9:g.48782056_48782057insT , CM000677.1:g.48782056_48782057insT GRCh37
NC_000015.8:g.46569348_46569349insT NCBI36
NG_008805.2:g.160929_160930insA , LRG_778:g.160929_160930insA

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3073_3074insA ENSP00000453958.2:p.Phe1025TyrfsTer7
ENST00000674301.2:c.3073_3074insA ENSP00000501333.2:p.Phe1025TyrfsTer7
ENST00000684448.1:n.1747_1748insA
ENST00000316623.10:c.3073_3074insA MANE Select ENSP00000325527.5:p.Phe1025TyrfsTer7
ENST00000316623.9:c.3073_3074insA ENSP00000325527.5:p.Phe1025TyrfsTer7
ENST00000537463.6:c.637-15210_637-15209insA ENSP00000440294.2:n.637-15210_637-15209in...
NM_000138.4:c.3073_3074insA , LRG_778t1:c.3073_3074insA NP_000129.3:p.Phe1025TyrfsTer7
NM_000138.5:c.3073_3074insA MANE Select NP_000129.3:p.Phe1025TyrfsTer7