Canonical Allele Identifier: CA2628347639
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48445507-G-GTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445507_48445508insTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCA , CM000677.2:g.48445507_48445508insTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCA GRCh38
NC_000015.9:g.48737704_48737705insTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCA , CM000677.1:g.48737704_48737705insTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCA GRCh37
NC_000015.8:g.46524996_46524997insTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCA NCBI36
NG_008805.2:g.205281_205282insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA , LRG_778:g.205281_205282insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA

Transcript Alleles

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