Canonical Allele Identifier: CA2175486772
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411339_48411341delinsCAA , CM000677.2:g.48411339_48411341delinsCAA GRCh38
NC_000015.9:g.48703536_48703538delinsCAA , CM000677.1:g.48703536_48703538delinsCAA GRCh37
NC_000015.8:g.46490828_46490830delinsCAA NCBI36
NG_008805.2:g.239448_239450delinsTTG , LRG_778:g.239448_239450delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1073_*1075delinsTTG ENSP00000453958.2:n.*1073_*1075delinsTTG
ENST00000674301.2:c.*1778_*1780delinsTTG ENSP00000501333.2:n.*1778_*1780delinsTTG
ENST00000682158.1:n.1646_1648delinsTTG
ENST00000682170.1:n.2446_2448delinsTTG
ENST00000682767.1:n.1562_1564delinsTTG
ENST00000316623.10:c.8265_8267delinsTTG MANE Select ENSP00000325527.5:p.Ser2755=
ENST00000674301.1:c.3431_3433delinsTTG ENSP00000501333.1:n.3431_3433delinsTTG
ENST00000316623.9:c.8265_8267delinsTTG ENSP00000325527.5:p.Ser2755=
ENST00000559133.5:c.3634_3636delinsTTG
ENST00000561429.1:n.520_522delinsTTG
NM_000138.4:c.8265_8267delinsTTG , LRG_778t1:c.8265_8267delinsTTG NP_000129.3:p.Ser2755=
NM_000138.5:c.8265_8267delinsTTG MANE Select NP_000129.3:p.Ser2755=
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