Canonical Allele Identifier: CA2695220379

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490019_48490020del , CM000677.2:g.48490019_48490020del	GRCh38
NC_000015.9:g.48782216_48782217del , CM000677.1:g.48782216_48782217del	GRCh37
NC_000015.8:g.46569508_46569509del	NCBI36
NG_008805.2:g.160769_160770del , LRG_778:g.160769_160770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2913_2914del	ENSP00000453958.2:p.Ala972TrpfsTer19
ENST00000674301.2:c.2913_2914del	ENSP00000501333.2:p.Ala972TrpfsTer19
ENST00000684448.1:n.1587_1588del
ENST00000316623.10:c.2913_2914del MANE Select	ENSP00000325527.5:p.Ala972TrpfsTer19
ENST00000316623.9:c.2913_2914del	ENSP00000325527.5:p.Ala972TrpfsTer19
ENST00000537463.6:c.637-15370_637-15369del	ENSP00000440294.2:n.637-15370_637-15369del
NM_000138.4:c.2913_2914del , LRG_778t1:c.2913_2914del	NP_000129.3:p.Ala972TrpfsTer19
NM_000138.5:c.2913_2914del MANE Select	NP_000129.3:p.Ala972TrpfsTer19