Canonical Allele Identifier: CA2534512032
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409274_48409275insATAGAGGTG , CM000677.2:g.48409274_48409275insATAGAGGTG GRCh38
NC_000015.9:g.48701471_48701472insATAGAGGTG , CM000677.1:g.48701471_48701472insATAGAGGTG GRCh37
NC_000015.8:g.46488763_46488764insATAGAGGTG NCBI36
NG_008805.2:g.241517_241518insCTCTATCAC , LRG_778:g.241517_241518insCTCTATCAC

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4515_4516insCTCTATCAC
ENST00000682767.1:n.3631_3632insCTCTATCAC
ENST00000316623.10:c.*1718_*1719insCTCTATCAC MANE Select ENSP00000325527.5:n.*1718_*1719insCTCTATCAC
ENST00000316623.9:c.*1718_*1719insCTCTATCAC ENSP00000325527.5:n.*1718_*1719insCTCTATCAC
NM_000138.4:c.*1718_*1719insCTCTATCAC , LRG_778t1:c.*1718_*1719insCTCTATCAC NP_000129.3:n.*1718_*1719insCTCTATCAC
NM_000138.5:c.*1718_*1719insCTCTATCAC MANE Select NP_000129.3:n.*1718_*1719insCTCTATCAC
Search 100 bp 5'
Search 100 bp 3'