Canonical Allele Identifier: CA915940949
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2413170
ClinVar RCV Id: RCV003110176
ERepo: CA915940949/MONDO:0007947/022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474311_48474316del , CM000677.2:g.48474311_48474316del GRCh38
NC_000015.9:g.48766508_48766513del , CM000677.1:g.48766508_48766513del GRCh37
NC_000015.8:g.46553800_46553805del NCBI36
NG_008805.2:g.176473_176478del , LRG_778:g.176473_176478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4149_4154del ENSP00000453958.2:p.Met1384_Gly1385del
ENST00000674301.2:c.4149_4154del ENSP00000501333.2:p.Met1384_Gly1385del
ENST00000684448.1:n.2823_2828del
ENST00000316623.10:c.4149_4154del MANE Select ENSP00000325527.5:p.Met1384_Gly1385del
ENST00000316623.9:c.4149_4154del ENSP00000325527.5:p.Met1384_Gly1385del
ENST00000537463.6:c.821_826del ENSP00000440294.2:p.Pro274_Asp276delinsHis
NM_000138.4:c.4149_4154del , LRG_778t1:c.4149_4154del NP_000129.3:p.Met1384_Gly1385del
NM_000138.5:c.4149_4154del MANE Select NP_000129.3:p.Met1384_Gly1385del
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