Canonical Allele Identifier: CA2175493064
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043152593
gnomAD v4: 15-48445582-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445588dup , CM000677.2:g.48445588dup GRCh38
NC_000015.9:g.48737785dup , CM000677.1:g.48737785dup GRCh37
NC_000015.8:g.46525077dup NCBI36
NG_008805.2:g.205206dup , LRG_778:g.205206dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5789-79dup ENSP00000453958.2:n.5789-79dup
ENST00000674301.2:c.5789-79dup ENSP00000501333.2:n.5789-79dup
ENST00000684448.1:n.4463-79dup
ENST00000316623.10:c.5789-79dup MANE Select ENSP00000325527.5:n.5789-79dup
ENST00000674301.1:c.788-79dup ENSP00000501333.1:n.788-79dup
ENST00000316623.9:c.5789-79dup ENSP00000325527.5:n.5789-79dup
ENST00000537463.6:c.*1552-79dup ENSP00000440294.2:n.*1552-79dup
ENST00000559133.5:c.1096-79dup
NM_000138.4:c.5789-79dup , LRG_778t1:c.5789-79dup NP_000129.3:n.5789-79dup
NM_000138.5:c.5789-79dup MANE Select NP_000129.3:n.5789-79dup
Search 100 bp 5'
Search 100 bp 3'