Canonical Allele Identifier: CA2628329438
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48485237-CTTGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485240_48485243del , CM000677.2:g.48485240_48485243del GRCh38
NC_000015.9:g.48777437_48777440del , CM000677.1:g.48777437_48777440del GRCh37
NC_000015.8:g.46564729_46564732del NCBI36
NG_008805.2:g.165548_165551del , LRG_778:g.165548_165551del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3712+133_3712+136del ENSP00000453958.2:n.3712+133_3712+136del
ENST00000674301.2:c.3712+133_3712+136del ENSP00000501333.2:n.3712+133_3712+136del
ENST00000684448.1:n.2386+133_2386+136del
ENST00000316623.10:c.3712+133_3712+136del MANE Select ENSP00000325527.5:n.3712+133_3712+136del
ENST00000316623.9:c.3712+133_3712+136del ENSP00000325527.5:n.3712+133_3712+136del
ENST00000537463.6:c.637-10591_637-10588del ENSP00000440294.2:n.637-10591_637-10588del
NM_000138.4:c.3712+133_3712+136del , LRG_778t1:c.3712+133_3712+136del NP_000129.3:n.3712+133_3712+136del
NM_000138.5:c.3712+133_3712+136del MANE Select NP_000129.3:n.3712+133_3712+136del
Search 100 bp 5'
Search 100 bp 3'