Canonical Allele Identifier: CA2175492406
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445404_48445405delinsCT , CM000677.2:g.48445404_48445405delinsCT GRCh38
NC_000015.9:g.48737601_48737602delinsCT , CM000677.1:g.48737601_48737602delinsCT GRCh37
NC_000015.8:g.46524893_46524894delinsCT NCBI36
NG_008805.2:g.205384_205385delinsAG , LRG_778:g.205384_205385delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5888_5889delinsAG ENSP00000453958.2:p.Glu1963=
ENST00000674301.2:c.5888_5889delinsAG ENSP00000501333.2:p.Glu1963=
ENST00000684448.1:n.4562_4563delinsAG
ENST00000316623.10:c.5888_5889delinsAG MANE Select ENSP00000325527.5:p.Glu1963=
ENST00000674301.1:c.887_888delinsAG ENSP00000501333.1:p.Glu296=
ENST00000316623.9:c.5888_5889delinsAG ENSP00000325527.5:p.Glu1963=
ENST00000537463.6:c.*1651_*1652delinsAG ENSP00000440294.2:n.*1651_*1652delinsAG
ENST00000559133.5:c.1195_1196delinsAG
ENST00000560820.1:n.8_9delinsAG
NM_000138.4:c.5888_5889delinsAG , LRG_778t1:c.5888_5889delinsAG NP_000129.3:p.Glu1963=
NM_000138.5:c.5888_5889delinsAG MANE Select NP_000129.3:p.Glu1963=
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