Canonical Allele Identifier: CA2175496681
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474753_48474758delinsGGTATA , CM000677.2:g.48474753_48474758delinsGGTATA GRCh38
NC_000015.9:g.48766950_48766955delinsGGTATA , CM000677.1:g.48766950_48766955delinsGGTATA GRCh37
NC_000015.8:g.46554242_46554247delinsGGTATA NCBI36
NG_008805.2:g.176031_176036delinsTATACC , LRG_778:g.176031_176036delinsTATACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3965-108_3965-103delinsTATACC ENSP00000453958.2:n.3965-108_3965-103delinsTATACC
ENST00000674301.2:c.3965-108_3965-103delinsTATACC ENSP00000501333.2:n.3965-108_3965-103delinsTATACC
ENST00000684448.1:n.2639-108_2639-103delinsTATACC
ENST00000316623.10:c.3965-108_3965-103delinsTATACC MANE Select ENSP00000325527.5:n.3965-108_3965-103delinsTATACC
ENST00000316623.9:c.3965-108_3965-103delinsTATACC ENSP00000325527.5:n.3965-108_3965-103delinsTATACC
ENST00000537463.6:c.637-108_637-103delinsTATACC ENSP00000440294.2:n.637-108_637-103delinsTATACC
NM_000138.4:c.3965-108_3965-103delinsTATACC , LRG_778t1:c.3965-108_3965-103delinsTATACC NP_000129.3:n.3965-108_3965-103delinsTATACC
NM_000138.5:c.3965-108_3965-103delinsTATACC MANE Select NP_000129.3:n.3965-108_3965-103delinsTATACC
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