Canonical Allele Identifier: CA656136021

Gene: FBN1

Linked Data

• COSMIC: COSN1678071

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48497129_48497130del , CM000677.2:g.48497129_48497130del	GRCh38
NC_000015.9:g.48789326_48789327del , CM000677.1:g.48789326_48789327del	GRCh37
NC_000015.8:g.46576618_46576619del	NCBI36
NG_008805.2:g.153662_153663del , LRG_778:g.153662_153663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2293+139_2293+140del	ENSP00000453958.2:n.2293+139_2293+140del
ENST00000674301.2:c.2293+139_2293+140del	ENSP00000501333.2:n.2293+139_2293+140del
ENST00000684448.1:n.967+139_967+140del
ENST00000316623.10:c.2293+139_2293+140del MANE Select	ENSP00000325527.5:n.2293+139_2293+140del
ENST00000316623.9:c.2293+139_2293+140del	ENSP00000325527.5:n.2293+139_2293+140del
ENST00000537463.6:c.637-22477_637-22476del	ENSP00000440294.2:n.637-22477_637-22476del
NM_000138.4:c.2293+139_2293+140del , LRG_778t1:c.2293+139_2293+140del	NP_000129.3:n.2293+139_2293+140del
NM_000138.5:c.2293+139_2293+140del MANE Select	NP_000129.3:n.2293+139_2293+140del