Canonical Allele Identifier: CA2628324418
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48409528-A-ACTCAT
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409532_48409533insTCTCA , CM000677.2:g.48409532_48409533insTCTCA GRCh38
NC_000015.9:g.48701729_48701730insTCTCA , CM000677.1:g.48701729_48701730insTCTCA GRCh37
NC_000015.8:g.46489021_46489022insTCTCA NCBI36
NG_008805.2:g.241260_241261insATGAG , LRG_778:g.241260_241261insATGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4258_4259insATGAG
ENST00000682767.1:n.3374_3375insATGAG
ENST00000316623.10:c.*1461_*1462insATGAG MANE Select ENSP00000325527.5:n.*1461_*1462insATGAG
ENST00000316623.9:c.*1461_*1462insATGAG ENSP00000325527.5:n.*1461_*1462insATGAG
NM_000138.4:c.*1461_*1462insATGAG , LRG_778t1:c.*1461_*1462insATGAG NP_000129.3:n.*1461_*1462insATGAG
NM_000138.5:c.*1461_*1462insATGAG MANE Select NP_000129.3:n.*1461_*1462insATGAG
Search 100 bp 5'
Search 100 bp 3'