Canonical Allele Identifier: CA2175484461
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408966_48408967delinsTC , CM000677.2:g.48408966_48408967delinsTC GRCh38
NC_000015.9:g.48701163_48701164delinsTC , CM000677.1:g.48701163_48701164delinsTC GRCh37
NC_000015.8:g.46488455_46488456delinsTC NCBI36
NG_008805.2:g.241822_241823delinsGA , LRG_778:g.241822_241823delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4820_4821delinsGA
ENST00000682767.1:n.3936_3937delinsGA
ENST00000316623.10:c.*2023_*2024delinsGA MANE Select ENSP00000325527.5:n.*2023_*2024delinsGA
ENST00000316623.9:c.*2023_*2024delinsGA ENSP00000325527.5:n.*2023_*2024delinsGA
NM_000138.4:c.*2023_*2024delinsGA , LRG_778t1:c.*2023_*2024delinsGA NP_000129.3:n.*2023_*2024delinsGA
NM_000138.5:c.*2023_*2024delinsGA MANE Select NP_000129.3:n.*2023_*2024delinsGA
Search 100 bp 5'
Search 100 bp 3'