Canonical Allele Identifier: CA2628324324
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48409307-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409311del , CM000677.2:g.48409311del GRCh38
NC_000015.9:g.48701508del , CM000677.1:g.48701508del GRCh37
NC_000015.8:g.46488800del NCBI36
NG_008805.2:g.241481del , LRG_778:g.241481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4479del
ENST00000682767.1:n.3595del
ENST00000316623.10:c.*1682del MANE Select ENSP00000325527.5:n.*1682del
ENST00000316623.9:c.*1682del ENSP00000325527.5:n.*1682del
NM_000138.4:c.*1682del , LRG_778t1:c.*1682del NP_000129.3:n.*1682del
NM_000138.5:c.*1682del MANE Select NP_000129.3:n.*1682del
Search 100 bp 5'
Search 100 bp 3'