Canonical Allele Identifier: CA2175493023
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043152505
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445572_48445573insATCTT , CM000677.2:g.48445572_48445573insATCTT GRCh38
NC_000015.9:g.48737769_48737770insATCTT , CM000677.1:g.48737769_48737770insATCTT GRCh37
NC_000015.8:g.46525061_46525062insATCTT NCBI36
NG_008805.2:g.205216_205217insAAGAT , LRG_778:g.205216_205217insAAGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5789-69_5789-68insAAGAT ENSP00000453958.2:n.5789-69_5789-68insAAGAT
ENST00000674301.2:c.5789-69_5789-68insAAGAT ENSP00000501333.2:n.5789-69_5789-68insAAGAT
ENST00000684448.1:n.4463-69_4463-68insAAGAT
ENST00000316623.10:c.5789-69_5789-68insAAGAT MANE Select ENSP00000325527.5:n.5789-69_5789-68insAAGAT
ENST00000674301.1:c.788-69_788-68insAAGAT ENSP00000501333.1:n.788-69_788-68insAAGAT
ENST00000316623.9:c.5789-69_5789-68insAAGAT ENSP00000325527.5:n.5789-69_5789-68insAAGAT
ENST00000537463.6:c.*1552-69_*1552-68insAAGAT ENSP00000440294.2:n.*1552-69_*1552-68insAAGAT
ENST00000559133.5:c.1096-69_1096-68insAAGAT
NM_000138.4:c.5789-69_5789-68insAAGAT , LRG_778t1:c.5789-69_5789-68insAAGAT NP_000129.3:n.5789-69_5789-68insAAGAT
NM_000138.5:c.5789-69_5789-68insAAGAT MANE Select NP_000129.3:n.5789-69_5789-68insAAGAT
Search 100 bp 5'
Search 100 bp 3'