Canonical Allele Identifier: CA2628329569

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421813-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421815_48421816del , CM000677.2:g.48421815_48421816del	GRCh38
NC_000015.9:g.48714012_48714013del , CM000677.1:g.48714012_48714013del	GRCh37
NC_000015.8:g.46501304_46501305del	NCBI36
NG_008805.2:g.228974_228975del , LRG_778:g.228974_228975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-129_*379-128del	ENSP00000453958.2:n.*379-129_*379-128del
ENST00000674301.2:c.*1084-129_*1084-128del	ENSP00000501333.2:n.*1084-129_*1084-128del
ENST00000682170.1:n.1752-129_1752-128del
ENST00000682767.1:n.868-129_868-128del
ENST00000316623.10:c.7571-129_7571-128del MANE Select	ENSP00000325527.5:n.7571-129_7571-128del
ENST00000674301.1:c.2737-129_2737-128del	ENSP00000501333.1:n.2737-129_2737-128del
ENST00000316623.9:c.7571-129_7571-128del	ENSP00000325527.5:n.7571-129_7571-128del
ENST00000559133.5:c.2940-129_2940-128del
NM_000138.4:c.7571-129_7571-128del , LRG_778t1:c.7571-129_7571-128del	NP_000129.3:n.7571-129_7571-128del
NM_000138.5:c.7571-129_7571-128del MANE Select	NP_000129.3:n.7571-129_7571-128del