Canonical Allele Identifier: CA2175509629
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483895_48483899delinsCACTG , CM000677.2:g.48483895_48483899delinsCACTG GRCh38
NC_000015.9:g.48776092_48776096delinsCACTG , CM000677.1:g.48776092_48776096delinsCACTG GRCh37
NC_000015.8:g.46563384_46563388delinsCACTG NCBI36
NG_008805.2:g.166890_166894delinsCAGTG , LRG_778:g.166890_166894delinsCAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3757_3761delinsCAGTG ENSP00000453958.2:p.Gln1253=
ENST00000674301.2:c.3757_3761delinsCAGTG ENSP00000501333.2:p.Gln1253=
ENST00000684448.1:n.2431_2435delinsCAGTG
ENST00000316623.10:c.3757_3761delinsCAGTG MANE Select ENSP00000325527.5:p.Gln1253=
ENST00000316623.9:c.3757_3761delinsCAGTG ENSP00000325527.5:p.Gln1253=
ENST00000537463.6:c.637-9249_637-9245delinsCAGTG ENSP00000440294.2:n.637-9249_637-9245delinsCAGTG
NM_000138.4:c.3757_3761delinsCAGTG , LRG_778t1:c.3757_3761delinsCAGTG NP_000129.3:p.Gln1253=
NM_000138.5:c.3757_3761delinsCAGTG MANE Select NP_000129.3:p.Gln1253=
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