Canonical Allele Identifier: CA2175492488
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445429_48445430delinsTG , CM000677.2:g.48445429_48445430delinsTG GRCh38
NC_000015.9:g.48737626_48737627delinsTG , CM000677.1:g.48737626_48737627delinsTG GRCh37
NC_000015.8:g.46524918_46524919delinsTG NCBI36
NG_008805.2:g.205359_205360delinsCA , LRG_778:g.205359_205360delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5863_5864delinsCA ENSP00000453958.2:p.Gln1955=
ENST00000674301.2:c.5863_5864delinsCA ENSP00000501333.2:p.Gln1955=
ENST00000684448.1:n.4537_4538delinsCA
ENST00000316623.10:c.5863_5864delinsCA MANE Select ENSP00000325527.5:p.Gln1955=
ENST00000674301.1:c.862_863delinsCA ENSP00000501333.1:p.Gln288=
ENST00000316623.9:c.5863_5864delinsCA ENSP00000325527.5:p.Gln1955=
ENST00000537463.6:c.*1626_*1627delinsCA ENSP00000440294.2:n.*1626_*1627delinsCA
ENST00000559133.5:c.1170_1171delinsCA
NM_000138.4:c.5863_5864delinsCA , LRG_778t1:c.5863_5864delinsCA NP_000129.3:p.Gln1955=
NM_000138.5:c.5863_5864delinsCA MANE Select NP_000129.3:p.Gln1955=
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