Canonical Allele Identifier: CA2175485400
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410066_48410067delinsCA , CM000677.2:g.48410066_48410067delinsCA GRCh38
NC_000015.9:g.48702263_48702264delinsCA , CM000677.1:g.48702263_48702264delinsCA GRCh37
NC_000015.8:g.46489555_46489556delinsCA NCBI36
NG_008805.2:g.240722_240723delinsTG , LRG_778:g.240722_240723delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.3720_3721delinsTG
ENST00000682767.1:n.2836_2837delinsTG
ENST00000316623.10:c.*923_*924delinsTG MANE Select ENSP00000325527.5:n.*923_*924delinsTG
ENST00000316623.9:c.*923_*924delinsTG ENSP00000325527.5:n.*923_*924delinsTG
NM_000138.4:c.*923_*924delinsTG , LRG_778t1:c.*923_*924delinsTG NP_000129.3:n.*923_*924delinsTG
NM_000138.5:c.*923_*924delinsTG MANE Select NP_000129.3:n.*923_*924delinsTG
Search 100 bp 5'
Search 100 bp 3'