Canonical Allele Identifier: CA2628347697
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48445621-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445623del , CM000677.2:g.48445623del GRCh38
NC_000015.9:g.48737820del , CM000677.1:g.48737820del GRCh37
NC_000015.8:g.46525112del NCBI36
NG_008805.2:g.205167del , LRG_778:g.205167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5789-118del ENSP00000453958.2:n.5789-118del
ENST00000674301.2:c.5789-118del ENSP00000501333.2:n.5789-118del
ENST00000684448.1:n.4463-118del
ENST00000316623.10:c.5789-118del MANE Select ENSP00000325527.5:n.5789-118del
ENST00000674301.1:c.788-118del ENSP00000501333.1:n.788-118del
ENST00000316623.9:c.5789-118del ENSP00000325527.5:n.5789-118del
ENST00000537463.6:c.*1552-118del ENSP00000440294.2:n.*1552-118del
ENST00000559133.5:c.1096-118del
NM_000138.4:c.5789-118del , LRG_778t1:c.5789-118del NP_000129.3:n.5789-118del
NM_000138.5:c.5789-118del MANE Select NP_000129.3:n.5789-118del
Search 100 bp 5'
Search 100 bp 3'