Canonical Allele Identifier: CA2695220670
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485420_48485485del , CM000677.2:g.48485420_48485485del GRCh38
NC_000015.9:g.48777617_48777682del , CM000677.1:g.48777617_48777682del GRCh37
NC_000015.8:g.46564909_46564974del NCBI36
NG_008805.2:g.165306_165371del , LRG_778:g.165306_165371del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3603_3668del ENSP00000453958.2:p.Ser1202_Cys1223del
ENST00000674301.2:c.3603_3668del ENSP00000501333.2:p.Ser1202_Cys1223del
ENST00000684448.1:n.2277_2342del
ENST00000316623.10:c.3603_3668del MANE Select ENSP00000325527.5:p.Ser1202_Cys1223del
ENST00000316623.9:c.3603_3668del ENSP00000325527.5:p.Ser1202_Cys1223del
ENST00000537463.6:c.637-10833_637-10768del ENSP00000440294.2:n.637-10833_637-10768del
NM_000138.4:c.3603_3668del , LRG_778t1:c.3603_3668del NP_000129.3:p.Ser1202_Cys1223del
NM_000138.5:c.3603_3668del MANE Select NP_000129.3:p.Ser1202_Cys1223del
Search 100 bp 5'
Search 100 bp 3'