Canonical Allele Identifier: CA969548993

Gene: FBN1

Linked Data

• dbSNP Id: rs2043114967
• gnomAD v3: 15-48441521-AC-A
• gnomAD v4: 15-48441521-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441523del , CM000677.2:g.48441523del	GRCh38
NC_000015.9:g.48733720del , CM000677.1:g.48733720del	GRCh37
NC_000015.8:g.46521012del	NCBI36
NG_008805.2:g.209267del , LRG_778:g.209267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6163+199del	ENSP00000453958.2:n.6163+199del
ENST00000674301.2:c.6163+199del	ENSP00000501333.2:n.6163+199del
ENST00000316623.10:c.6163+199del MANE Select	ENSP00000325527.5:n.6163+199del
ENST00000674301.1:c.1162+199del	ENSP00000501333.1:n.1162+199del
ENST00000316623.9:c.6163+199del	ENSP00000325527.5:n.6163+199del
ENST00000537463.6:c.*1926+199del	ENSP00000440294.2:n.*1926+199del
ENST00000559133.5:c.1470+199del
ENST00000560820.1:n.283+199del
NM_000138.4:c.6163+199del , LRG_778t1:c.6163+199del	NP_000129.3:n.6163+199del
NM_000138.5:c.6163+199del MANE Select	NP_000129.3:n.6163+199del