Canonical Allele Identifier: CA16619971

Gene: FBN1

Linked Data

• ClinVar Variation Id: 423245
• ClinVar RCV Id: RCV000479958
• dbSNP Id: rs1555399762
• MyVariant Identifiers: chr15:g.48796043_48796047dupCAACA (hg19) ; chr15:g.48796042_48796043insCAACA (hg19) ; chr15:g.48503846_48503850dupCAACA (hg38) ; chr15:g.48503845_48503846insCAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503846_48503850dup , CM000677.2:g.48503846_48503850dup	GRCh38
NC_000015.9:g.48796043_48796047dup , CM000677.1:g.48796043_48796047dup	GRCh37
NC_000015.8:g.46583335_46583339dup	NCBI36
NG_008805.2:g.146939_146943dup , LRG_778:g.146939_146943dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2050_2054dup	ENSP00000453958.2:p.Ala686ValfsTer?
ENST00000674301.2:c.2050_2054dup	ENSP00000501333.2:p.Ala686ValfsTer?
ENST00000684448.1:n.724_728dup
ENST00000316623.10:c.2050_2054dup MANE Select	ENSP00000325527.5:p.Ala686ValfsTer?
ENST00000316623.9:c.2050_2054dup	ENSP00000325527.5:p.Ala686ValfsTer?
ENST00000537463.6:c.637-29200_637-29196dup	ENSP00000440294.2:n.637-29200_637-29196dup
NM_000138.4:c.2050_2054dup , LRG_778t1:c.2050_2054dup	NP_000129.3:p.Ala686ValfsTer?
NM_000138.5:c.2050_2054dup MANE Select	NP_000129.3:p.Ala686ValfsTer?