Canonical Allele Identifier: CA2628335364

Gene: FBN1

Linked Data

• gnomAD v4: 15-48497230-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48497231del , CM000677.2:g.48497231del	GRCh38
NC_000015.9:g.48789428del , CM000677.1:g.48789428del	GRCh37
NC_000015.8:g.46576720del	NCBI36
NG_008805.2:g.153558del , LRG_778:g.153558del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2293+35del	ENSP00000453958.2:n.2293+35del
ENST00000674301.2:c.2293+35del	ENSP00000501333.2:n.2293+35del
ENST00000684448.1:n.967+35del
ENST00000316623.10:c.2293+35del MANE Select	ENSP00000325527.5:n.2293+35del
ENST00000316623.9:c.2293+35del	ENSP00000325527.5:n.2293+35del
ENST00000537463.6:c.637-22581del	ENSP00000440294.2:n.637-22581del
NM_000138.4:c.2293+35del , LRG_778t1:c.2293+35del	NP_000129.3:n.2293+35del
NM_000138.5:c.2293+35del MANE Select	NP_000129.3:n.2293+35del