Canonical Allele Identifier: CA2628331842

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428475-T-TCTCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428475_48428476insCTCCGC , CM000677.2:g.48428475_48428476insCTCCGC	GRCh38
NC_000015.9:g.48720672_48720673insCTCCGC , CM000677.1:g.48720672_48720673insCTCCGC	GRCh37
NC_000015.8:g.46507964_46507965insCTCCGC	NCBI36
NG_008805.2:g.222313_222314insGCGGAG , LRG_778:g.222313_222314insGCGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-5_6872-4insGCGGAG	ENSP00000453958.2:n.6872-5_6872-4insGCGGAG
ENST00000674301.2:c.*323-5_*323-4insGCGGAG	ENSP00000501333.2:n.*323-5_*323-4insGCGGAG
ENST00000682170.1:n.481-5_481-4insGCGGAG
ENST00000682767.1:n.102_103insGCGGAG
ENST00000316623.10:c.6872-5_6872-4insGCGGAG MANE Select	ENSP00000325527.5:n.6872-5_6872-4insGCGGAG
ENST00000674301.1:c.1976-5_1976-4insGCGGAG	ENSP00000501333.1:n.1976-5_1976-4insGCGGAG
ENST00000316623.9:c.6872-5_6872-4insGCGGAG	ENSP00000325527.5:n.6872-5_6872-4insGCGGAG
ENST00000559133.5:c.2179-5_2179-4insGCGGAG
ENST00000560720.1:n.159-5_159-4insGCGGAG
NM_000138.4:c.6872-5_6872-4insGCGGAG , LRG_778t1:c.6872-5_6872-4insGCGGAG	NP_000129.3:n.6872-5_6872-4insGCGGAG
NM_000138.5:c.6872-5_6872-4insGCGGAG MANE Select	NP_000129.3:n.6872-5_6872-4insGCGGAG