Canonical Allele Identifier: CA2628329798

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422070-T-TTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422070_48422071insTTGC , CM000677.2:g.48422070_48422071insTTGC	GRCh38
NC_000015.9:g.48714267_48714268insTTGC , CM000677.1:g.48714267_48714268insTTGC	GRCh37
NC_000015.8:g.46501559_46501560insTTGC	NCBI36
NG_008805.2:g.228718_228719insGCAA , LRG_778:g.228718_228719insGCAA

Transcript Alleles

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