Canonical Allele Identifier: CA2628333392
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48468536-T-TGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGCAAAGGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468536_48468537insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGCAAAGGAG , CM000677.2:g.48468536_48468537insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGCAAAGGAG GRCh38
NC_000015.9:g.48760733_48760734insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGCAAAGGAG , CM000677.1:g.48760733_48760734insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGCAAAGGAG GRCh37
NC_000015.8:g.46548025_46548026insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGCAAAGGAG NCBI36
NG_008805.2:g.182252_182253insCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC , LRG_778:g.182252_182253insCTCCTTTGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC

Transcript Alleles

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