Canonical Allele Identifier: CA2695197285

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2633885
• ClinVar RCV Id: RCV004531655

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483928_48483944delinsG , CM000677.2:g.48483928_48483944delinsG	GRCh38
NC_000015.9:g.48776125_48776141delinsG , CM000677.1:g.48776125_48776141delinsG	GRCh37
NC_000015.8:g.46563417_46563433delinsG	NCBI36
NG_008805.2:g.166845_166861delinsC , LRG_778:g.166845_166861delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-1_3728delinsC
ENST00000674301.2:c.3713-1_3728delinsC
ENST00000684448.1:n.2387-1_2402delinsC
ENST00000316623.10:c.3713-1_3728delinsC
ENST00000316623.9:c.3713-1_3728delinsC
ENST00000537463.6:c.637-9294_637-9278delinsC	ENSP00000440294.2:n.637-9294_637-9278delinsC
NM_000138.4:c.3713-1_3728delinsC , LRG_778t1:c.3713-1_3728delinsC
NM_000138.5:c.3713-1_3728delinsC