Canonical Allele Identifier: CA2740096589
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2943232
ClinVar RCV Id: RCV003800350
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468434dup , CM000677.2:g.48468434dup GRCh38
NC_000015.9:g.48760631dup , CM000677.1:g.48760631dup GRCh37
NC_000015.8:g.46547923dup NCBI36
NG_008805.2:g.182357dup , LRG_778:g.182357dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4562dup ENSP00000453958.2:p.Thr1522AsnfsTer7
ENST00000674301.2:c.4562dup ENSP00000501333.2:p.Thr1522AsnfsTer7
ENST00000684448.1:n.3236dup
ENST00000316623.10:c.4562dup MANE Select ENSP00000325527.5:p.Thr1522AsnfsTer7
ENST00000316623.9:c.4562dup ENSP00000325527.5:p.Thr1522AsnfsTer7
ENST00000537463.6:c.*325dup ENSP00000440294.2:n.*325dup
NM_000138.4:c.4562dup , LRG_778t1:c.4562dup NP_000129.3:p.Thr1522AsnfsTer7
NM_000138.5:c.4562dup MANE Select NP_000129.3:p.Thr1522AsnfsTer7
Search 100 bp 5'
Search 100 bp 3'