Canonical Allele Identifier: CA2628329815

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422081-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422082del , CM000677.2:g.48422082del	GRCh38
NC_000015.9:g.48714279del , CM000677.1:g.48714279del	GRCh37
NC_000015.8:g.46501571del	NCBI36
NG_008805.2:g.228707del , LRG_778:g.228707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-14del	ENSP00000453958.2:n.*262-14del
ENST00000674301.2:c.*967-14del	ENSP00000501333.2:n.*967-14del
ENST00000682170.1:n.1635-14del
ENST00000682767.1:n.751-14del
ENST00000316623.10:c.7454-14del MANE Select	ENSP00000325527.5:n.7454-14del
ENST00000674301.1:c.2620-14del	ENSP00000501333.1:n.2620-14del
ENST00000316623.9:c.7454-14del	ENSP00000325527.5:n.7454-14del
ENST00000559133.5:c.2823-14del
NM_000138.4:c.7454-14del , LRG_778t1:c.7454-14del	NP_000129.3:n.7454-14del
NM_000138.5:c.7454-14del MANE Select	NP_000129.3:n.7454-14del