Canonical Allele Identifier: CA2740096592
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2946184
ClinVar RCV Id: RCV003806470
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472607dup , CM000677.2:g.48472607dup GRCh38
NC_000015.9:g.48764804dup , CM000677.1:g.48764804dup GRCh37
NC_000015.8:g.46552096dup NCBI36
NG_008805.2:g.178182dup , LRG_778:g.178182dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4280dup ENSP00000453958.2:p.Tyr1427Ter
ENST00000674301.2:c.4280dup ENSP00000501333.2:p.Tyr1427Ter
ENST00000683268.1:n.247dup
ENST00000684448.1:n.2954dup
ENST00000316623.10:c.4280dup MANE Select ENSP00000325527.5:p.Tyr1427Ter
ENST00000316623.9:c.4280dup ENSP00000325527.5:p.Tyr1427Ter
ENST00000537463.6:c.*43dup ENSP00000440294.2:n.*43dup
NM_000138.4:c.4280dup , LRG_778t1:c.4280dup NP_000129.3:p.Tyr1427Ter
NM_000138.5:c.4280dup MANE Select NP_000129.3:p.Tyr1427Ter
Search 100 bp 5'
Search 100 bp 3'