Canonical Allele Identifier: CA2175523903

Gene: FBN1

Linked Data

• dbSNP Id: rs2043567519
• gnomAD v4: 15-48492405-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492410del , CM000677.2:g.48492410del	GRCh38
NC_000015.9:g.48784607del , CM000677.1:g.48784607del	GRCh37
NC_000015.8:g.46571899del	NCBI36
NG_008805.2:g.158383del , LRG_778:g.158383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+55del	ENSP00000453958.2:n.2854+55del
ENST00000674301.2:c.2854+55del	ENSP00000501333.2:n.2854+55del
ENST00000684448.1:n.1528+55del
ENST00000316623.10:c.2854+55del MANE Select	ENSP00000325527.5:n.2854+55del
ENST00000316623.9:c.2854+55del	ENSP00000325527.5:n.2854+55del
ENST00000537463.6:c.637-17756del	ENSP00000440294.2:n.637-17756del
NM_000138.4:c.2854+55del , LRG_778t1:c.2854+55del	NP_000129.3:n.2854+55del
NM_000138.5:c.2854+55del MANE Select	NP_000129.3:n.2854+55del