Canonical Allele Identifier: CA2175513193
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445155_48445171delinsTACATATATATATACAC , CM000677.2:g.48445155_48445171delinsTACATATATATATACAC GRCh38
NC_000015.9:g.48737352_48737368delinsTACATATATATATACAC , CM000677.1:g.48737352_48737368delinsTACATATATATATACAC GRCh37
NC_000015.8:g.46524644_46524660delinsTACATATATATATACAC NCBI36
NG_008805.2:g.205618_205634delinsGTGTATATATATATGTA , LRG_778:g.205618_205634delinsGTGTATATATATATGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+205_5917+221delinsGTGTATATATATATGTA ENSP00000453958.2:n.5917+205_5917+221delinsGTGTATATATATATGTA
ENST00000674301.2:c.5917+205_5917+221delinsGTGTATATATATATGTA ENSP00000501333.2:n.5917+205_5917+221delinsGTGTATATATATATGTA
ENST00000684448.1:n.4591+205_4591+221delinsGTGTATATATATATGTA
ENST00000316623.10:c.5917+205_5917+221delinsGTGTATATATATATGTA MANE Select ENSP00000325527.5:n.5917+205_5917+221delinsGTGTATATATATATGTA
ENST00000674301.1:c.916+205_916+221delinsGTGTATATATATATGTA ENSP00000501333.1:n.916+205_916+221delinsGTGTATATATATATGTA
ENST00000316623.9:c.5917+205_5917+221delinsGTGTATATATATATGTA ENSP00000325527.5:n.5917+205_5917+221delinsGTGTATATATATATGTA
ENST00000537463.6:c.*1680+205_*1680+221delinsGTGTATATATATATGTA ENSP00000440294.2:n.*1680+205_*1680+221delinsGTGTATATATATATGT...
ENST00000559133.5:c.1224+205_1224+221delinsGTGTATATATATATGTA
ENST00000560820.1:n.37+205_37+221delinsGTGTATATATATATGTA
NM_000138.4:c.5917+205_5917+221delinsGTGTATATATATATGTA , LRG_778t1:c.5917+205_5917+221delinsGTGTATATATATATGTA NP_000129.3:n.5917+205_5917+221delinsGTGTATATATATATGTA
NM_000138.5:c.5917+205_5917+221delinsGTGTATATATATATGTA MANE Select NP_000129.3:n.5917+205_5917+221delinsGTGTATATATATATGTA
Search 100 bp 5'
Search 100 bp 3'