Canonical Allele Identifier: CA2628331222
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48428073-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428074del , CM000677.2:g.48428074del GRCh38
NC_000015.9:g.48720271del , CM000677.1:g.48720271del GRCh37
NC_000015.8:g.46507563del NCBI36
NG_008805.2:g.222715del , LRG_778:g.222715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6998-131del ENSP00000453958.2:n.6998-131del
ENST00000674301.2:c.*449-131del ENSP00000501333.2:n.*449-131del
ENST00000682170.1:n.878del
ENST00000682767.1:n.233-131del
ENST00000316623.10:c.6997+272del MANE Select ENSP00000325527.5:n.6997+272del
ENST00000674301.1:c.2102-131del ENSP00000501333.1:n.2102-131del
ENST00000316623.9:c.6997+272del ENSP00000325527.5:n.6997+272del
ENST00000559133.5:c.2305-131del
ENST00000560720.1:n.556del
NM_000138.4:c.6997+272del , LRG_778t1:c.6997+272del NP_000129.3:n.6997+272del
NM_000138.5:c.6997+272del MANE Select NP_000129.3:n.6997+272del
Search 100 bp 5'
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