Canonical Allele Identifier: CA2695220374

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489970del , CM000677.2:g.48489970del	GRCh38
NC_000015.9:g.48782167del , CM000677.1:g.48782167del	GRCh37
NC_000015.8:g.46569459del	NCBI36
NG_008805.2:g.160822del , LRG_778:g.160822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2966del	ENSP00000453958.2:p.Gly989ValfsTer10
ENST00000674301.2:c.2966del	ENSP00000501333.2:p.Gly989ValfsTer10
ENST00000684448.1:n.1640del
ENST00000316623.10:c.2966del MANE Select	ENSP00000325527.5:p.Gly989ValfsTer10
ENST00000316623.9:c.2966del	ENSP00000325527.5:p.Gly989ValfsTer10
ENST00000537463.6:c.637-15317del	ENSP00000440294.2:n.637-15317del
NM_000138.4:c.2966del , LRG_778t1:c.2966del	NP_000129.3:p.Gly989ValfsTer10
NM_000138.5:c.2966del MANE Select	NP_000129.3:p.Gly989ValfsTer10