Canonical Allele Identifier: CA2628333390

Gene: FBN1

Linked Data

• gnomAD v4: 15-48468536-T-TGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468536_48468537insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGC , CM000677.2:g.48468536_48468537insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGC	GRCh38
NC_000015.9:g.48760733_48760734insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGC , CM000677.1:g.48760733_48760734insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGC	GRCh37
NC_000015.8:g.46548025_46548026insGCTAGCGGGGCTGCCAGAGCCCTCCCGGCCAGGC	NCBI36
NG_008805.2:g.182252_182253insGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC , LRG_778:g.182252_182253insGCCTGGCCGGGAGGGCTCTGGCAGCCCCGCTAGC

Transcript Alleles

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