Canonical Allele Identifier: CA915945995
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 647831
ClinVar RCV Id: RCV000802425
dbSNP Id: rs1597548734
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468046dup , CM000677.2:g.48468046dup GRCh38
NC_000015.9:g.48760243dup , CM000677.1:g.48760243dup GRCh37
NC_000015.8:g.46547535dup NCBI36
NG_008805.2:g.182743dup , LRG_778:g.182743dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4639dup ENSP00000453958.2:p.Thr1547AsnfsTer6
ENST00000674301.2:c.4639dup ENSP00000501333.2:p.Thr1547AsnfsTer6
ENST00000684448.1:n.3313dup
ENST00000316623.10:c.4639dup MANE Select ENSP00000325527.5:p.Thr1547AsnfsTer6
ENST00000316623.9:c.4639dup ENSP00000325527.5:p.Thr1547AsnfsTer6
ENST00000537463.6:c.*402dup ENSP00000440294.2:n.*402dup
NM_000138.4:c.4639dup , LRG_778t1:c.4639dup NP_000129.3:p.Thr1547AsnfsTer6
NM_000138.5:c.4639dup MANE Select NP_000129.3:p.Thr1547AsnfsTer6
Search 100 bp 5'
Search 100 bp 3'