Canonical Allele Identifier: CA2175518358
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468286_48468288delinsTAG , CM000677.2:g.48468286_48468288delinsTAG GRCh38
NC_000015.9:g.48760483_48760485delinsTAG , CM000677.1:g.48760483_48760485delinsTAG GRCh37
NC_000015.8:g.46547775_46547777delinsTAG NCBI36
NG_008805.2:g.182501_182503delinsCTA , LRG_778:g.182501_182503delinsCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4582+124_4582+126delinsCTA ENSP00000453958.2:n.4582+124_4582+126delinsCTA
ENST00000674301.2:c.4582+124_4582+126delinsCTA ENSP00000501333.2:n.4582+124_4582+126delinsCTA
ENST00000684448.1:n.3256+124_3256+126delinsCTA
ENST00000316623.10:c.4582+124_4582+126delinsCTA MANE Select ENSP00000325527.5:n.4582+124_4582+126delinsCTA
ENST00000316623.9:c.4582+124_4582+126delinsCTA ENSP00000325527.5:n.4582+124_4582+126delinsCTA
ENST00000537463.6:c.*345+124_*345+126delinsCTA ENSP00000440294.2:n.*345+124_*345+126delinsCTA
NM_000138.4:c.4582+124_4582+126delinsCTA , LRG_778t1:c.4582+124_4582+126delinsCTA NP_000129.3:n.4582+124_4582+126delinsCTA
NM_000138.5:c.4582+124_4582+126delinsCTA MANE Select NP_000129.3:n.4582+124_4582+126delinsCTA
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