Canonical Allele Identifier: CA2628347663

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445572-ACTTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445573_48445577del , CM000677.2:g.48445573_48445577del	GRCh38
NC_000015.9:g.48737770_48737774del , CM000677.1:g.48737770_48737774del	GRCh37
NC_000015.8:g.46525062_46525066del	NCBI36
NG_008805.2:g.205212_205216del , LRG_778:g.205212_205216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-73_5789-69del	ENSP00000453958.2:n.5789-73_5789-69del
ENST00000674301.2:c.5789-73_5789-69del	ENSP00000501333.2:n.5789-73_5789-69del
ENST00000684448.1:n.4463-73_4463-69del
ENST00000316623.10:c.5789-73_5789-69del MANE Select	ENSP00000325527.5:n.5789-73_5789-69del
ENST00000674301.1:c.788-73_788-69del	ENSP00000501333.1:n.788-73_788-69del
ENST00000316623.9:c.5789-73_5789-69del	ENSP00000325527.5:n.5789-73_5789-69del
ENST00000537463.6:c.*1552-73_*1552-69del	ENSP00000440294.2:n.*1552-73_*1552-69del
ENST00000559133.5:c.1096-73_1096-69del
NM_000138.4:c.5789-73_5789-69del , LRG_778t1:c.5789-73_5789-69del	NP_000129.3:n.5789-73_5789-69del
NM_000138.5:c.5789-73_5789-69del MANE Select	NP_000129.3:n.5789-73_5789-69del