Canonical Allele Identifier: CA2175518356
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468281_48468282delinsTA , CM000677.2:g.48468281_48468282delinsTA GRCh38
NC_000015.9:g.48760478_48760479delinsTA , CM000677.1:g.48760478_48760479delinsTA GRCh37
NC_000015.8:g.46547770_46547771delinsTA NCBI36
NG_008805.2:g.182507_182508delinsTA , LRG_778:g.182507_182508delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4582+130_4582+131delinsTA ENSP00000453958.2:n.4582+130_4582+131delinsTA
ENST00000674301.2:c.4582+130_4582+131delinsTA ENSP00000501333.2:n.4582+130_4582+131delinsTA
ENST00000684448.1:n.3256+130_3256+131delinsTA
ENST00000316623.10:c.4582+130_4582+131delinsTA MANE Select ENSP00000325527.5:n.4582+130_4582+131delinsTA
ENST00000316623.9:c.4582+130_4582+131delinsTA ENSP00000325527.5:n.4582+130_4582+131delinsTA
ENST00000537463.6:c.*345+130_*345+131delinsTA ENSP00000440294.2:n.*345+130_*345+131delinsTA
NM_000138.4:c.4582+130_4582+131delinsTA , LRG_778t1:c.4582+130_4582+131delinsTA NP_000129.3:n.4582+130_4582+131delinsTA
NM_000138.5:c.4582+130_4582+131delinsTA MANE Select NP_000129.3:n.4582+130_4582+131delinsTA
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