Canonical Allele Identifier: CA2628347666

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445573-C-CTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445575_48445576insTTT , CM000677.2:g.48445575_48445576insTTT	GRCh38
NC_000015.9:g.48737772_48737773insTTT , CM000677.1:g.48737772_48737773insTTT	GRCh37
NC_000015.8:g.46525064_46525065insTTT	NCBI36
NG_008805.2:g.205215_205216insAAA , LRG_778:g.205215_205216insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-70_5789-69insAAA	ENSP00000453958.2:n.5789-70_5789-69insAAA
ENST00000674301.2:c.5789-70_5789-69insAAA	ENSP00000501333.2:n.5789-70_5789-69insAAA
ENST00000684448.1:n.4463-70_4463-69insAAA
ENST00000316623.10:c.5789-70_5789-69insAAA MANE Select	ENSP00000325527.5:n.5789-70_5789-69insAAA
ENST00000674301.1:c.788-70_788-69insAAA	ENSP00000501333.1:n.788-70_788-69insAAA
ENST00000316623.9:c.5789-70_5789-69insAAA	ENSP00000325527.5:n.5789-70_5789-69insAAA
ENST00000537463.6:c.*1552-70_*1552-69insAAA	ENSP00000440294.2:n.*1552-70_*1552-69insAAA
ENST00000559133.5:c.1096-70_1096-69insAAA
NM_000138.4:c.5789-70_5789-69insAAA , LRG_778t1:c.5789-70_5789-69insAAA	NP_000129.3:n.5789-70_5789-69insAAA
NM_000138.5:c.5789-70_5789-69insAAA MANE Select	NP_000129.3:n.5789-70_5789-69insAAA