Canonical Allele Identifier: CA269518414
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs552538828
gnomAD v2: 15-48701542-A-AT
gnomAD v3: 15-48409345-A-AT
gnomAD v4: 15-48409345-A-AT
MyVariant Identifiers: chr15:g.48701542_48701543insT (hg19) chr15:g.48409345_48409346insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409352dup , CM000677.2:g.48409352dup GRCh38
NC_000015.9:g.48701549dup , CM000677.1:g.48701549dup GRCh37
NC_000015.8:g.46488841dup NCBI36
NG_008805.2:g.241443dup , LRG_778:g.241443dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4441dup
ENST00000682767.1:n.3557dup
ENST00000316623.10:c.*1644dup MANE Select ENSP00000325527.5:n.*1644dup
ENST00000316623.9:c.*1644dup ENSP00000325527.5:n.*1644dup
NM_000138.4:c.*1644dup , LRG_778t1:c.*1644dup NP_000129.3:n.*1644dup
NM_000138.5:c.*1644dup MANE Select NP_000129.3:n.*1644dup
Search 100 bp 5'
Search 100 bp 3'