Canonical Allele Identifier: CA658798049

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519777
• ClinVar RCV Id: RCV001213742 ; RCV001250578 ; RCV002313265
• dbSNP Id: rs1555395002
• MyVariant Identifiers: chr15:g.48726797_48726798del (hg19) ; chr15:g.48434600_48434601del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434600_48434601del , CM000677.2:g.48434600_48434601del	GRCh38
NC_000015.9:g.48726797_48726798del , CM000677.1:g.48726797_48726798del	GRCh37
NC_000015.8:g.46514089_46514090del	NCBI36
NG_008805.2:g.216188_216189del , LRG_778:g.216188_216189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6609_6610del	ENSP00000453958.2:p.Cys2204Ter
ENST00000674301.2:c.6609_6610del	ENSP00000501333.2:p.Cys2204Ter
ENST00000682170.1:n.218_219del
ENST00000316623.10:c.6609_6610del MANE Select	ENSP00000325527.5:p.Cys2204Ter
ENST00000674301.1:c.1608_1609del	ENSP00000501333.1:p.Cys537Ter
ENST00000316623.9:c.6609_6610del	ENSP00000325527.5:p.Cys2204Ter
ENST00000537463.6:c.*2372_*2373del	ENSP00000440294.2:n.*2372_*2373del
ENST00000559133.5:c.1916_1917del
NM_000138.4:c.6609_6610del , LRG_778t1:c.6609_6610del	NP_000129.3:p.Cys2204Ter
NM_000138.5:c.6609_6610del MANE Select	NP_000129.3:p.Cys2204Ter