Canonical Allele Identifier: CA2175495699
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474459_48474460delinsTA , CM000677.2:g.48474459_48474460delinsTA GRCh38
NC_000015.9:g.48766656_48766657delinsTA , CM000677.1:g.48766656_48766657delinsTA GRCh37
NC_000015.8:g.46553948_46553949delinsTA NCBI36
NG_008805.2:g.176329_176330delinsTA , LRG_778:g.176329_176330delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4087+68_4087+69delinsTA ENSP00000453958.2:n.4087+68_4087+69delinsTA
ENST00000674301.2:c.4087+68_4087+69delinsTA ENSP00000501333.2:n.4087+68_4087+69delinsTA
ENST00000684448.1:n.2761+68_2761+69delinsTA
ENST00000316623.10:c.4087+68_4087+69delinsTA MANE Select ENSP00000325527.5:n.4087+68_4087+69delinsTA
ENST00000316623.9:c.4087+68_4087+69delinsTA ENSP00000325527.5:n.4087+68_4087+69delinsTA
ENST00000537463.6:c.759+68_759+69delinsTA ENSP00000440294.2:n.759+68_759+69delinsTA
NM_000138.4:c.4087+68_4087+69delinsTA , LRG_778t1:c.4087+68_4087+69delinsTA NP_000129.3:n.4087+68_4087+69delinsTA
NM_000138.5:c.4087+68_4087+69delinsTA MANE Select NP_000129.3:n.4087+68_4087+69delinsTA
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