Canonical Allele Identifier: CA2575716946

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428518del , CM000677.2:g.48428518del	GRCh38
NC_000015.9:g.48720715del , CM000677.1:g.48720715del	GRCh37
NC_000015.8:g.46508007del	NCBI36
NG_008805.2:g.222272del , LRG_778:g.222272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-46del	ENSP00000453958.2:n.6872-46del
ENST00000674301.2:c.*323-46del	ENSP00000501333.2:n.*323-46del
ENST00000682170.1:n.481-46del
ENST00000682767.1:n.61del
ENST00000316623.10:c.6872-46del MANE Select	ENSP00000325527.5:n.6872-46del
ENST00000674301.1:c.1976-46del	ENSP00000501333.1:n.1976-46del
ENST00000316623.9:c.6872-46del	ENSP00000325527.5:n.6872-46del
ENST00000559133.5:c.2179-46del
ENST00000560720.1:n.159-46del
NM_000138.4:c.6872-46del , LRG_778t1:c.6872-46del	NP_000129.3:n.6872-46del
NM_000138.5:c.6872-46del MANE Select	NP_000129.3:n.6872-46del