Canonical Allele Identifier: CA2175496371
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474621_48474622delinsTG , CM000677.2:g.48474621_48474622delinsTG GRCh38
NC_000015.9:g.48766818_48766819delinsTG , CM000677.1:g.48766818_48766819delinsTG GRCh37
NC_000015.8:g.46554110_46554111delinsTG NCBI36
NG_008805.2:g.176167_176168delinsCA , LRG_778:g.176167_176168delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3993_3994delinsCA ENSP00000453958.2:p.His1331=
ENST00000674301.2:c.3993_3994delinsCA ENSP00000501333.2:p.His1331=
ENST00000684448.1:n.2667_2668delinsCA
ENST00000316623.10:c.3993_3994delinsCA MANE Select ENSP00000325527.5:p.His1331=
ENST00000316623.9:c.3993_3994delinsCA ENSP00000325527.5:p.His1331=
ENST00000537463.6:c.665_666delinsCA ENSP00000440294.2:p.Thr222=
NM_000138.4:c.3993_3994delinsCA , LRG_778t1:c.3993_3994delinsCA NP_000129.3:p.His1331=
NM_000138.5:c.3993_3994delinsCA MANE Select NP_000129.3:p.His1331=
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