Canonical Allele Identifier: CA2695220601

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468467_48468470del , CM000677.2:g.48468467_48468470del	GRCh38
NC_000015.9:g.48760664_48760667del , CM000677.1:g.48760664_48760667del	GRCh37
NC_000015.8:g.46547956_46547959del	NCBI36
NG_008805.2:g.182319_182322del , LRG_778:g.182319_182322del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4524_4527del	ENSP00000453958.2:p.Ser1508ArgfsTer11
ENST00000674301.2:c.4524_4527del	ENSP00000501333.2:p.Ser1508ArgfsTer11
ENST00000684448.1:n.3198_3201del
ENST00000316623.10:c.4524_4527del MANE Select	ENSP00000325527.5:p.Ser1508ArgfsTer11
ENST00000316623.9:c.4524_4527del	ENSP00000325527.5:p.Ser1508ArgfsTer11
ENST00000537463.6:c.*287_*290del	ENSP00000440294.2:n.*287_*290del
NM_000138.4:c.4524_4527del , LRG_778t1:c.4524_4527del	NP_000129.3:p.Ser1508ArgfsTer11
NM_000138.5:c.4524_4527del MANE Select	NP_000129.3:p.Ser1508ArgfsTer11