Canonical Allele Identifier: CA2628348038

Gene: FBN1

Linked Data

• gnomAD v4: 15-48449022-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48449023_48449024del , CM000677.2:g.48449023_48449024del	GRCh38
NC_000015.9:g.48741220_48741221del , CM000677.1:g.48741220_48741221del	GRCh37
NC_000015.8:g.46528512_46528513del	NCBI36
NG_008805.2:g.201765_201766del , LRG_778:g.201765_201766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5546-131_5546-130del	ENSP00000453958.2:n.5546-131_5546-130del
ENST00000674301.2:c.5546-131_5546-130del	ENSP00000501333.2:n.5546-131_5546-130del
ENST00000684448.1:n.4220-131_4220-130del
ENST00000316623.10:c.5546-131_5546-130del MANE Select	ENSP00000325527.5:n.5546-131_5546-130del
ENST00000674301.1:c.545-131_545-130del	ENSP00000501333.1:n.545-131_545-130del
ENST00000316623.9:c.5546-131_5546-130del	ENSP00000325527.5:n.5546-131_5546-130del
ENST00000537463.6:c.*1309-131_*1309-130del	ENSP00000440294.2:n.*1309-131_*1309-130del
ENST00000559133.5:c.853-131_853-130del
NM_000138.4:c.5546-131_5546-130del , LRG_778t1:c.5546-131_5546-130del	NP_000129.3:n.5546-131_5546-130del
NM_000138.5:c.5546-131_5546-130del MANE Select	NP_000129.3:n.5546-131_5546-130del