Canonical Allele Identifier: CA2695202264

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488452del , CM000677.2:g.48488452del	GRCh38
NC_000015.9:g.48780649del , CM000677.1:g.48780649del	GRCh37
NC_000015.8:g.46567941del	NCBI36
NG_008805.2:g.162338del , LRG_778:g.162338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3125del	ENSP00000453958.2:p.Gly1042AlafsTer?
ENST00000674301.2:c.3125del	ENSP00000501333.2:p.Gly1042AlafsTer?
ENST00000684448.1:n.1799del
ENST00000316623.10:c.3125del MANE Select	ENSP00000325527.5:p.Gly1042AlafsTer?
ENST00000316623.9:c.3125del	ENSP00000325527.5:p.Gly1042AlafsTer?
ENST00000537463.6:c.637-13801del	ENSP00000440294.2:n.637-13801del
NM_000138.4:c.3125del , LRG_778t1:c.3125del	NP_000129.3:p.Gly1042AlafsTer?
NM_000138.5:c.3125del MANE Select	NP_000129.3:p.Gly1042AlafsTer?