Canonical Allele Identifier: CA2628329800

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422070-T-TTTGCAGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422070_48422071insTTGCAGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGGC , CM000677.2:g.48422070_48422071insTTGCAGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGGC	GRCh38
NC_000015.9:g.48714267_48714268insTTGCAGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGGC , CM000677.1:g.48714267_48714268insTTGCAGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGGC	GRCh37
NC_000015.8:g.46501559_46501560insTTGCAGCTCCTTCCATCCTCTTGCAGAATGTAGCCTTTCGGGC	NCBI36
NG_008805.2:g.228718_228719insGCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGCTGCAA , LRG_778:g.228718_228719insGCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGCTGCAA

Transcript Alleles

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