Canonical Allele Identifier: CA2628336101

Gene: FBN1

Linked Data

• gnomAD v4: 15-48509962-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48509963del , CM000677.2:g.48509963del	GRCh38
NC_000015.9:g.48802160del , CM000677.1:g.48802160del	GRCh37
NC_000015.8:g.46589452del	NCBI36
NG_008805.2:g.140826del , LRG_778:g.140826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1714+81del	ENSP00000453958.2:n.1714+81del
ENST00000674301.2:c.1714+81del	ENSP00000501333.2:n.1714+81del
ENST00000684448.1:n.388+81del
ENST00000316623.10:c.1714+81del MANE Select	ENSP00000325527.5:n.1714+81del
ENST00000316623.9:c.1714+81del	ENSP00000325527.5:n.1714+81del
ENST00000537463.6:c.636+27748del	ENSP00000440294.2:n.636+27748del
NM_000138.4:c.1714+81del , LRG_778t1:c.1714+81del	NP_000129.3:n.1714+81del
NM_000138.5:c.1714+81del MANE Select	NP_000129.3:n.1714+81del