Canonical Allele Identifier: CA2573150791

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1325484
• ClinVar RCV Id: RCV002246096
• dbSNP Id: rs2141302411

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494236_48494237dup , CM000677.2:g.48494236_48494237dup	GRCh38
NC_000015.9:g.48786433_48786434dup , CM000677.1:g.48786433_48786434dup	GRCh37
NC_000015.8:g.46573725_46573726dup	NCBI36
NG_008805.2:g.156553_156554dup , LRG_778:g.156553_156554dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2696_2697dup	ENSP00000453958.2:p.Tyr900GlyfsTer13
ENST00000674301.2:c.2696_2697dup	ENSP00000501333.2:p.Tyr900GlyfsTer13
ENST00000684448.1:n.1370_1371dup
ENST00000316623.10:c.2696_2697dup MANE Select	ENSP00000325527.5:p.Tyr900GlyfsTer13
ENST00000316623.9:c.2696_2697dup	ENSP00000325527.5:p.Tyr900GlyfsTer13
ENST00000537463.6:c.637-19586_637-19585dup	ENSP00000440294.2:n.637-19586_637-19585dup
NM_000138.4:c.2696_2697dup , LRG_778t1:c.2696_2697dup	NP_000129.3:p.Tyr900GlyfsTer13
NM_000138.5:c.2696_2697dup MANE Select	NP_000129.3:p.Tyr900GlyfsTer13