Canonical Allele Identifier: CA713403373
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1253221385

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445121_48445134del , CM000677.2:g.48445121_48445134del GRCh38
NC_000015.9:g.48737318_48737331del , CM000677.1:g.48737318_48737331del GRCh37
NC_000015.8:g.46524610_46524623del NCBI36
NG_008805.2:g.205666_205679del , LRG_778:g.205666_205679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+253_5917+266del ENSP00000453958.2:n.5917+253_5917+266del
ENST00000674301.2:c.5917+253_5917+266del ENSP00000501333.2:n.5917+253_5917+266del
ENST00000684448.1:n.4591+253_4591+266del
ENST00000316623.10:c.5917+253_5917+266del MANE Select ENSP00000325527.5:n.5917+253_5917+266del
ENST00000674301.1:c.916+253_916+266del ENSP00000501333.1:n.916+253_916+266del
ENST00000316623.9:c.5917+253_5917+266del ENSP00000325527.5:n.5917+253_5917+266del
ENST00000537463.6:c.*1680+253_*1680+266del ENSP00000440294.2:n.*1680+253_*1680+266del
ENST00000559133.5:c.1224+253_1224+266del
ENST00000560820.1:n.37+253_37+266del
NM_000138.4:c.5917+253_5917+266del , LRG_778t1:c.5917+253_5917+266del NP_000129.3:n.5917+253_5917+266del
NM_000138.5:c.5917+253_5917+266del MANE Select NP_000129.3:n.5917+253_5917+266del