Canonical Allele Identifier: CA2628324417
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48409523-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409526del , CM000677.2:g.48409526del GRCh38
NC_000015.9:g.48701723del , CM000677.1:g.48701723del GRCh37
NC_000015.8:g.46489015del NCBI36
NG_008805.2:g.241265del , LRG_778:g.241265del

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4263del
ENST00000682767.1:n.3379del
ENST00000316623.10:c.*1466del MANE Select ENSP00000325527.5:n.*1466del
ENST00000316623.9:c.*1466del ENSP00000325527.5:n.*1466del
NM_000138.4:c.*1466del , LRG_778t1:c.*1466del NP_000129.3:n.*1466del
NM_000138.5:c.*1466del MANE Select NP_000129.3:n.*1466del
Search 100 bp 5'
Search 100 bp 3'