Canonical Allele Identifier: CA2695220225

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445408del , CM000677.2:g.48445408del	GRCh38
NC_000015.9:g.48737605del , CM000677.1:g.48737605del	GRCh37
NC_000015.8:g.46524897del	NCBI36
NG_008805.2:g.205381del , LRG_778:g.205381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5885del	ENSP00000453958.2:p.Tyr1962LeufsTer18
ENST00000674301.2:c.5885del	ENSP00000501333.2:p.Tyr1962LeufsTer18
ENST00000684448.1:n.4559del
ENST00000316623.10:c.5885del MANE Select	ENSP00000325527.5:p.Tyr1962LeufsTer18
ENST00000674301.1:c.884del	ENSP00000501333.1:p.Tyr295LeufsTer18
ENST00000316623.9:c.5885del	ENSP00000325527.5:p.Tyr1962LeufsTer18
ENST00000537463.6:c.*1648del	ENSP00000440294.2:n.*1648del
ENST00000559133.5:c.1192del
ENST00000560820.1:n.5del
NM_000138.4:c.5885del , LRG_778t1:c.5885del	NP_000129.3:p.Tyr1962LeufsTer18
NM_000138.5:c.5885del MANE Select	NP_000129.3:p.Tyr1962LeufsTer18