Canonical Allele Identifier: CA2573150772

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1325489
• ClinVar RCV Id: RCV002246101
• dbSNP Id: rs2141297429

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490023_48490030dup , CM000677.2:g.48490023_48490030dup	GRCh38
NC_000015.9:g.48782220_48782227dup , CM000677.1:g.48782220_48782227dup	GRCh37
NC_000015.8:g.46569512_46569519dup	NCBI36
NG_008805.2:g.160759_160766dup , LRG_778:g.160759_160766dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2903_2910dup	ENSP00000453958.2:p.Ile971ProfsTer31
ENST00000674301.2:c.2903_2910dup	ENSP00000501333.2:p.Ile971ProfsTer31
ENST00000684448.1:n.1577_1584dup
ENST00000316623.10:c.2903_2910dup MANE Select	ENSP00000325527.5:p.Ile971ProfsTer31
ENST00000316623.9:c.2903_2910dup	ENSP00000325527.5:p.Ile971ProfsTer31
ENST00000537463.6:c.637-15380_637-15373dup	ENSP00000440294.2:n.637-15380_637-15373dup
NM_000138.4:c.2903_2910dup , LRG_778t1:c.2903_2910dup	NP_000129.3:p.Ile971ProfsTer31
NM_000138.5:c.2903_2910dup MANE Select	NP_000129.3:p.Ile971ProfsTer31