Canonical Allele Identifier: CA2695220222
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445388_48445389dup , CM000677.2:g.48445388_48445389dup GRCh38
NC_000015.9:g.48737585_48737586dup , CM000677.1:g.48737585_48737586dup GRCh37
NC_000015.8:g.46524877_46524878dup NCBI36
NG_008805.2:g.205401_205402dup , LRG_778:g.205401_205402dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5905_5906dup ENSP00000453958.2:p.Thr1970GlyfsTer11
ENST00000674301.2:c.5905_5906dup ENSP00000501333.2:p.Thr1970GlyfsTer11
ENST00000684448.1:n.4579_4580dup
ENST00000316623.10:c.5905_5906dup MANE Select ENSP00000325527.5:p.Thr1970GlyfsTer11
ENST00000674301.1:c.904_905dup ENSP00000501333.1:p.Thr303GlyfsTer11
ENST00000316623.9:c.5905_5906dup ENSP00000325527.5:p.Thr1970GlyfsTer11
ENST00000537463.6:c.*1668_*1669dup ENSP00000440294.2:n.*1668_*1669dup
ENST00000559133.5:c.1212_1213dup
ENST00000560820.1:n.25_26dup
NM_000138.4:c.5905_5906dup , LRG_778t1:c.5905_5906dup NP_000129.3:p.Thr1970GlyfsTer11
NM_000138.5:c.5905_5906dup MANE Select NP_000129.3:p.Thr1970GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'