Canonical Allele Identifier: CA2628329936

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422212-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422216_48422217del , CM000677.2:g.48422216_48422217del	GRCh38
NC_000015.9:g.48714413_48714414del , CM000677.1:g.48714413_48714414del	GRCh37
NC_000015.8:g.46501705_46501706del	NCBI36
NG_008805.2:g.228575_228576del , LRG_778:g.228575_228576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-146_*262-145del	ENSP00000453958.2:n.*262-146_*262-145del
ENST00000674301.2:c.*967-146_*967-145del	ENSP00000501333.2:n.*967-146_*967-145del
ENST00000682170.1:n.1635-146_1635-145del
ENST00000682767.1:n.751-146_751-145del
ENST00000316623.10:c.7454-146_7454-145del MANE Select	ENSP00000325527.5:n.7454-146_7454-145del
ENST00000674301.1:c.2620-146_2620-145del	ENSP00000501333.1:n.2620-146_2620-145del
ENST00000316623.9:c.7454-146_7454-145del	ENSP00000325527.5:n.7454-146_7454-145del
ENST00000559133.5:c.2823-146_2823-145del
NM_000138.4:c.7454-146_7454-145del , LRG_778t1:c.7454-146_7454-145del	NP_000129.3:n.7454-146_7454-145del
NM_000138.5:c.7454-146_7454-145del MANE Select	NP_000129.3:n.7454-146_7454-145del