Canonical Allele Identifier: CA969578490
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2042841965
gnomAD v3: 15-48409257-T-TA
gnomAD v4: 15-48409257-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409258dup , CM000677.2:g.48409258dup GRCh38
NC_000015.9:g.48701455dup , CM000677.1:g.48701455dup GRCh37
NC_000015.8:g.46488747dup NCBI36
NG_008805.2:g.241531dup , LRG_778:g.241531dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4529dup
ENST00000682767.1:n.3645dup
ENST00000316623.10:c.*1732dup MANE Select ENSP00000325527.5:n.*1732dup
ENST00000316623.9:c.*1732dup ENSP00000325527.5:n.*1732dup
NM_000138.4:c.*1732dup , LRG_778t1:c.*1732dup NP_000129.3:n.*1732dup
NM_000138.5:c.*1732dup MANE Select NP_000129.3:n.*1732dup
Search 100 bp 5'
Search 100 bp 3'