Canonical Allele Identifier: CA2697549055
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2574101
ClinVar RCV Id: RCV003485919
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474606_48474609del , CM000677.2:g.48474606_48474609del GRCh38
NC_000015.9:g.48766803_48766806del , CM000677.1:g.48766803_48766806del GRCh37
NC_000015.8:g.46554095_46554098del NCBI36
NG_008805.2:g.176181_176184del , LRG_778:g.176181_176184del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4007_4010del ENSP00000453958.2:p.His1336LeufsTer?
ENST00000674301.2:c.4007_4010del ENSP00000501333.2:p.His1336LeufsTer?
ENST00000684448.1:n.2681_2684del
ENST00000316623.10:c.4007_4010del MANE Select ENSP00000325527.5:p.His1336LeufsTer?
ENST00000316623.9:c.4007_4010del ENSP00000325527.5:p.His1336LeufsTer?
ENST00000537463.6:c.679_682del ENSP00000440294.2:p.Met227CysfsTer12
NM_000138.4:c.4007_4010del , LRG_778t1:c.4007_4010del NP_000129.3:p.His1336LeufsTer?
NM_000138.5:c.4007_4010del MANE Select NP_000129.3:p.His1336LeufsTer?
Search 100 bp 5'
Search 100 bp 3'