Canonical Allele Identifier: CA969559110
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v3: 15-48468763-T-TATTAGTCTTTGGTGGTCTTTCCC
gnomAD v4: 15-48468763-T-TATTAGTCTTTGGTGGTCTTTCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468763_48468764insATTAGTCTTTGGTGGTCTTTCCC , CM000677.2:g.48468763_48468764insATTAGTCTTTGGTGGTCTTTCCC GRCh38
NC_000015.9:g.48760960_48760961insATTAGTCTTTGGTGGTCTTTCCC , CM000677.1:g.48760960_48760961insATTAGTCTTTGGTGGTCTTTCCC GRCh37
NC_000015.8:g.46548252_46548253insATTAGTCTTTGGTGGTCTTTCCC NCBI36
NG_008805.2:g.182025_182026insGGGAAAGACCACCAAAGACTAAT , LRG_778:g.182025_182026insGGGAAAGACCACCAAAGACTAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT ENSP00000453958.2:n.4460-230_4460-229insGGGAAAGACCACCAAAGACTA...
ENST00000674301.2:c.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT ENSP00000501333.2:n.4460-230_4460-229insGGGAAAGACCACCAAAGACTA...
ENST00000684448.1:n.3134-230_3134-229insGGGAAAGACCACCAAAGACTAAT
ENST00000316623.10:c.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT MANE Select ENSP00000325527.5:n.4460-230_4460-229insGGGAAAGACCACCAAAGACTA...
ENST00000316623.9:c.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT ENSP00000325527.5:n.4460-230_4460-229insGGGAAAGACCACCAAAGACTA...
ENST00000537463.6:c.*223-230_*223-229insGGGAAAGACCACCAAAGACTAAT ENSP00000440294.2:n.*223-230_*223-229insGGGAAAGACCACCAAAGACTA...
NM_000138.4:c.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT , LRG_778t1:c.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT NP_000129.3:n.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT
NM_000138.5:c.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT MANE Select NP_000129.3:n.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT
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