Canonical Allele Identifier: CA269533973
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495581
ClinVar RCV Id: RCV000590824
dbSNP Id: rs200982490
gnomAD v2: 15-48782413-C-CA
gnomAD v3: 15-48490216-C-CA
gnomAD v4: 15-48490216-C-CA
MyVariant Identifiers: chr15:g.48782414dup (hg19) chr15:g.48782413_48782414insA (hg19) chr15:g.48490217dup (hg38) chr15:g.48490216_48490217insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490224dup , CM000677.2:g.48490224dup GRCh38
NC_000015.9:g.48782421dup , CM000677.1:g.48782421dup GRCh37
NC_000015.8:g.46569713dup NCBI36
NG_008805.2:g.160572dup , LRG_778:g.160572dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2855-139dup ENSP00000453958.2:n.2855-139dup
ENST00000674301.2:c.2855-139dup ENSP00000501333.2:n.2855-139dup
ENST00000684448.1:n.1529-139dup
ENST00000316623.10:c.2855-139dup MANE Select ENSP00000325527.5:n.2855-139dup
ENST00000316623.9:c.2855-139dup ENSP00000325527.5:n.2855-139dup
ENST00000537463.6:c.637-15567dup ENSP00000440294.2:n.637-15567dup
NM_000138.4:c.2855-139dup , LRG_778t1:c.2855-139dup NP_000129.3:n.2855-139dup
NM_000138.5:c.2855-139dup MANE Select NP_000129.3:n.2855-139dup
Search 100 bp 5'
Search 100 bp 3'