Canonical Allele Identifier: CA012454
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36037
ClinVar RCV Id: RCV000029697
dbSNP Id: rs193922181
MyVariant Identifiers: chr15:g.48802278_48802286dupCGCATTACA (hg19) chr15:g.48802277_48802278insCGCATTACA (hg19) chr15:g.48510081_48510089dupCGCATTACA (hg38) chr15:g.48510080_48510081insCGCATTACA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48510082_48510090dup , CM000677.2:g.48510082_48510090dup GRCh38
NC_000015.9:g.48802279_48802287dup , CM000677.1:g.48802279_48802287dup GRCh37
NC_000015.8:g.46589571_46589579dup NCBI36
NG_008805.2:g.140700_140708dup , LRG_778:g.140700_140708dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1669_1677dup ENSP00000453958.2:p.Ala559_Gly560insCysAs...
ENST00000674301.2:c.1669_1677dup ENSP00000501333.2:p.Ala559_Gly560insCysAs...
ENST00000684448.1:n.343_351dup
ENST00000316623.10:c.1669_1677dup MANE Select ENSP00000325527.5:p.Ala559_Gly560insCysAs...
ENST00000316623.9:c.1669_1677dup ENSP00000325527.5:p.Ala559_Gly560insCysAs...
ENST00000537463.6:c.636+27622_636+27630dup ENSP00000440294.2:n.636+27622_636+27630du...
NM_000138.4:c.1669_1677dup , LRG_778t1:c.1669_1677dup NP_000129.3:p.Ala559_Gly560insCysAsnAla
NM_000138.5:c.1669_1677dup MANE Select NP_000129.3:p.Ala559_Gly560insCysAsnAla
Search 100 bp 5'
Search 100 bp 3'