Canonical Allele Identifier: CA2175526421

Gene: FBN1

Linked Data

• dbSNP Id: rs2043587249

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494470_48494473del , CM000677.2:g.48494470_48494473del	GRCh38
NC_000015.9:g.48786667_48786670del , CM000677.1:g.48786667_48786670del	GRCh37
NC_000015.8:g.46573959_46573962del	NCBI36
NG_008805.2:g.156316_156319del , LRG_778:g.156316_156319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2678-219_2678-216del	ENSP00000453958.2:n.2678-219_2678-216del
ENST00000674301.2:c.2678-219_2678-216del	ENSP00000501333.2:n.2678-219_2678-216del
ENST00000684448.1:n.1352-219_1352-216del
ENST00000316623.10:c.2678-219_2678-216del MANE Select	ENSP00000325527.5:n.2678-219_2678-216del
ENST00000316623.9:c.2678-219_2678-216del	ENSP00000325527.5:n.2678-219_2678-216del
ENST00000537463.6:c.637-19823_637-19820del	ENSP00000440294.2:n.637-19823_637-19820del
NM_000138.4:c.2678-219_2678-216del , LRG_778t1:c.2678-219_2678-216del	NP_000129.3:n.2678-219_2678-216del
NM_000138.5:c.2678-219_2678-216del MANE Select	NP_000129.3:n.2678-219_2678-216del