Canonical Allele Identifier: CA2628337617
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48537858-A-AT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48537859dup , CM000677.2:g.48537859dup GRCh38
NC_000015.9:g.48830056dup , CM000677.1:g.48830056dup GRCh37
NC_000015.8:g.46617348dup NCBI36
NG_008805.2:g.112930dup , LRG_778:g.112930dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.539-51dup ENSP00000453958.2:n.539-51dup
ENST00000674301.2:c.539-51dup ENSP00000501333.2:n.539-51dup
ENST00000316623.10:c.539-51dup MANE Select ENSP00000325527.5:n.539-51dup
ENST00000316623.9:c.539-51dup ENSP00000325527.5:n.539-51dup
ENST00000537463.6:c.539-51dup ENSP00000440294.2:n.539-51dup
NM_000138.4:c.539-51dup , LRG_778t1:c.539-51dup NP_000129.3:n.539-51dup
NM_000138.5:c.539-51dup MANE Select NP_000129.3:n.539-51dup
Search 100 bp 5'
Search 100 bp 3'