Canonical Allele Identifier: CA2695220496

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412568_48412584del , CM000677.2:g.48412568_48412584del	GRCh38
NC_000015.9:g.48704765_48704781del , CM000677.1:g.48704765_48704781del	GRCh37
NC_000015.8:g.46492057_46492073del	NCBI36
NG_008805.2:g.238207_238223del , LRG_778:g.238207_238223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1021_*1034+3del
ENST00000674301.2:c.*1726_*1739+3del
ENST00000682158.1:n.1594_1607+3del
ENST00000682170.1:n.2394_2407+3del
ENST00000682767.1:n.1510_1523+3del
ENST00000316623.10:c.8213_8226+3del
ENST00000674301.1:c.3379_3392+3del
ENST00000316623.9:c.8213_8226+3del
ENST00000559133.5:c.3582_3595+3del
ENST00000561429.1:n.468_481+3del
NM_000138.4:c.8213_8226+3del , LRG_778t1:c.8213_8226+3del
NM_000138.5:c.8213_8226+3del