Canonical Allele Identifier: CA2628324376
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48409414-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409415del , CM000677.2:g.48409415del GRCh38
NC_000015.9:g.48701612del , CM000677.1:g.48701612del GRCh37
NC_000015.8:g.46488904del NCBI36
NG_008805.2:g.241374del , LRG_778:g.241374del

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4372del
ENST00000682767.1:n.3488del
ENST00000316623.10:c.*1575del MANE Select ENSP00000325527.5:n.*1575del
ENST00000316623.9:c.*1575del ENSP00000325527.5:n.*1575del
NM_000138.4:c.*1575del , LRG_778t1:c.*1575del NP_000129.3:n.*1575del
NM_000138.5:c.*1575del MANE Select NP_000129.3:n.*1575del
Search 100 bp 5'
Search 100 bp 3'