Canonical Allele Identifier: CA2175513963

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2000031
• ClinVar RCV Id: RCV002824223
• dbSNP Id: rs2043513684

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487075del , CM000677.2:g.48487075del	GRCh38
NC_000015.9:g.48779272del , CM000677.1:g.48779272del	GRCh37
NC_000015.8:g.46566564del	NCBI36
NG_008805.2:g.163715del , LRG_778:g.163715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+1del
ENST00000674301.2:c.3589+1del
ENST00000684448.1:n.2263+1del
ENST00000316623.10:c.3589+1del
ENST00000316623.9:c.3589+1del
ENST00000537463.6:c.637-12424del	ENSP00000440294.2:n.637-12424del
NM_000138.4:c.3589+1del , LRG_778t1:c.3589+1del
NM_000138.5:c.3589+1del