Canonical Allele Identifier: CA16619963
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423725
ClinVar RCV Id: RCV000485095 RCV003766722
dbSNP Id: rs1555398821
MyVariant Identifiers: chr15:g.48782196dupG (hg19) chr15:g.48782195_48782196insG (hg19) chr15:g.48489999dupG (hg38) chr15:g.48489998_48489999insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489999dup , CM000677.2:g.48489999dup GRCh38
NC_000015.9:g.48782196dup , CM000677.1:g.48782196dup GRCh37
NC_000015.8:g.46569488dup NCBI36
NG_008805.2:g.160790dup , LRG_778:g.160790dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2934dup ENSP00000453958.2:p.Ala979ArgfsTer13
ENST00000674301.2:c.2934dup ENSP00000501333.2:p.Ala979ArgfsTer13
ENST00000684448.1:n.1608dup
ENST00000316623.10:c.2934dup MANE Select ENSP00000325527.5:p.Ala979ArgfsTer13
ENST00000316623.9:c.2934dup ENSP00000325527.5:p.Ala979ArgfsTer13
ENST00000537463.6:c.637-15349dup ENSP00000440294.2:n.637-15349dup
NM_000138.4:c.2934dup , LRG_778t1:c.2934dup NP_000129.3:p.Ala979ArgfsTer13
NM_000138.5:c.2934dup MANE Select NP_000129.3:p.Ala979ArgfsTer13
Search 100 bp 5'
Search 100 bp 3'