Canonical Allele Identifier: CA2175495632
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474400_48474402delinsTTA , CM000677.2:g.48474400_48474402delinsTTA GRCh38
NC_000015.9:g.48766597_48766599delinsTTA , CM000677.1:g.48766597_48766599delinsTTA GRCh37
NC_000015.8:g.46553889_46553891delinsTTA NCBI36
NG_008805.2:g.176387_176389delinsTAA , LRG_778:g.176387_176389delinsTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4088-25_4088-23delinsTAA ENSP00000453958.2:n.4088-25_4088-23delinsTAA
ENST00000674301.2:c.4088-25_4088-23delinsTAA ENSP00000501333.2:n.4088-25_4088-23delinsTAA
ENST00000684448.1:n.2762-25_2762-23delinsTAA
ENST00000316623.10:c.4088-25_4088-23delinsTAA MANE Select ENSP00000325527.5:n.4088-25_4088-23delinsTAA
ENST00000316623.9:c.4088-25_4088-23delinsTAA ENSP00000325527.5:n.4088-25_4088-23delinsTAA
ENST00000537463.6:c.760-25_760-23delinsTAA ENSP00000440294.2:n.760-25_760-23delinsTAA
NM_000138.4:c.4088-25_4088-23delinsTAA , LRG_778t1:c.4088-25_4088-23delinsTAA NP_000129.3:n.4088-25_4088-23delinsTAA
NM_000138.5:c.4088-25_4088-23delinsTAA MANE Select NP_000129.3:n.4088-25_4088-23delinsTAA
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