Canonical Allele Identifier: CA2628347661

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445570-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445570_48445571insT , CM000677.2:g.48445570_48445571insT	GRCh38
NC_000015.9:g.48737767_48737768insT , CM000677.1:g.48737767_48737768insT	GRCh37
NC_000015.8:g.46525059_46525060insT	NCBI36
NG_008805.2:g.205218_205219insA , LRG_778:g.205218_205219insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-67_5789-66insA	ENSP00000453958.2:n.5789-67_5789-66insA
ENST00000674301.2:c.5789-67_5789-66insA	ENSP00000501333.2:n.5789-67_5789-66insA
ENST00000684448.1:n.4463-67_4463-66insA
ENST00000316623.10:c.5789-67_5789-66insA MANE Select	ENSP00000325527.5:n.5789-67_5789-66insA
ENST00000674301.1:c.788-67_788-66insA	ENSP00000501333.1:n.788-67_788-66insA
ENST00000316623.9:c.5789-67_5789-66insA	ENSP00000325527.5:n.5789-67_5789-66insA
ENST00000537463.6:c.*1552-67_*1552-66insA	ENSP00000440294.2:n.*1552-67_*1552-66insA
ENST00000559133.5:c.1096-67_1096-66insA
NM_000138.4:c.5789-67_5789-66insA , LRG_778t1:c.5789-67_5789-66insA	NP_000129.3:n.5789-67_5789-66insA
NM_000138.5:c.5789-67_5789-66insA MANE Select	NP_000129.3:n.5789-67_5789-66insA