Canonical Allele Identifier: CA2628329804

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422071-A-AGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422071_48422072insGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGG , CM000677.2:g.48422071_48422072insGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGG	GRCh38
NC_000015.9:g.48714268_48714269insGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGG , CM000677.1:g.48714268_48714269insGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGG	GRCh37
NC_000015.8:g.46501560_46501561insGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGG	NCBI36
NG_008805.2:g.228717_228718insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC , LRG_778:g.228717_228718insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-4_*262-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC	ENSP00000453958.2:n.*262-4_*262-3insCCCGAAAGGCTACATTCTGCAAGAG...
ENST00000674301.2:c.*967-4_*967-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC	ENSP00000501333.2:n.*967-4_*967-3insCCCGAAAGGCTACATTCTGCAAGAG...
ENST00000682170.1:n.1635-4_1635-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC
ENST00000682767.1:n.751-4_751-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC
ENST00000316623.10:c.7454-4_7454-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC MANE Select	ENSP00000325527.5:n.7454-4_7454-3insCCCGAAAGGCTACATTCTGCAAGAG...
ENST00000674301.1:c.2620-4_2620-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC	ENSP00000501333.1:n.2620-4_2620-3insCCCGAAAGGCTACATTCTGCAAGAG...
ENST00000316623.9:c.7454-4_7454-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC	ENSP00000325527.5:n.7454-4_7454-3insCCCGAAAGGCTACATTCTGCAAGAG...
ENST00000559133.5:c.2823-4_2823-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC
NM_000138.4:c.7454-4_7454-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC , LRG_778t1:c.7454-4_7454-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC	NP_000129.3:n.7454-4_7454-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGA...
NM_000138.5:c.7454-4_7454-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGC MANE Select	NP_000129.3:n.7454-4_7454-3insCCCGAAAGGCTACATTCTGCAAGAGGATGGA...