Canonical Allele Identifier: CA2740096671

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2922445
• ClinVar RCV Id: RCV003785659

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503836_48503837del , CM000677.2:g.48503836_48503837del	GRCh38
NC_000015.9:g.48796033_48796034del , CM000677.1:g.48796033_48796034del	GRCh37
NC_000015.8:g.46583325_46583326del	NCBI36
NG_008805.2:g.146952_146953del , LRG_778:g.146952_146953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2063_2064del	ENSP00000453958.2:p.Thr688ArgfsTer?
ENST00000674301.2:c.2063_2064del	ENSP00000501333.2:p.Thr688ArgfsTer?
ENST00000684448.1:n.737_738del
ENST00000316623.10:c.2063_2064del MANE Select	ENSP00000325527.5:p.Thr688ArgfsTer?
ENST00000316623.9:c.2063_2064del	ENSP00000325527.5:p.Thr688ArgfsTer?
ENST00000537463.6:c.637-29187_637-29186del	ENSP00000440294.2:n.637-29187_637-29186del
NM_000138.4:c.2063_2064del , LRG_778t1:c.2063_2064del	NP_000129.3:p.Thr688ArgfsTer?
NM_000138.5:c.2063_2064del MANE Select	NP_000129.3:p.Thr688ArgfsTer?