Canonical Allele Identifier: CA2628324246
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48409065-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409066del , CM000677.2:g.48409066del GRCh38
NC_000015.9:g.48701263del , CM000677.1:g.48701263del GRCh37
NC_000015.8:g.46488555del NCBI36
NG_008805.2:g.241723del , LRG_778:g.241723del

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4721del
ENST00000682767.1:n.3837del
ENST00000316623.10:c.*1924del MANE Select ENSP00000325527.5:n.*1924del
ENST00000316623.9:c.*1924del ENSP00000325527.5:n.*1924del
NM_000138.4:c.*1924del , LRG_778t1:c.*1924del NP_000129.3:n.*1924del
NM_000138.5:c.*1924del MANE Select NP_000129.3:n.*1924del
Search 100 bp 5'
Search 100 bp 3'