Canonical Allele Identifier: CA016254

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200166
• ClinVar RCV Id: RCV000181669
• dbSNP Id: rs794728314
• MyVariant Identifiers: chr15:g.48733952del (hg19) ; chr15:g.48441755del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441757del , CM000677.2:g.48441757del	GRCh38
NC_000015.9:g.48733954del , CM000677.1:g.48733954del	GRCh37
NC_000015.8:g.46521246del	NCBI36
NG_008805.2:g.209034del , LRG_778:g.209034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6129del	ENSP00000453958.2:p.Ser2045ProfsTer14
ENST00000674301.2:c.6129del	ENSP00000501333.2:p.Ser2045ProfsTer14
ENST00000316623.10:c.6129del MANE Select	ENSP00000325527.5:p.Ser2045ProfsTer14
ENST00000674301.1:c.1128del	ENSP00000501333.1:p.Ser378ProfsTer14
ENST00000316623.9:c.6129del	ENSP00000325527.5:p.Ser2045ProfsTer14
ENST00000537463.6:c.*1892del	ENSP00000440294.2:n.*1892del
ENST00000559133.5:c.1436del
ENST00000560820.1:n.249del
NM_000138.4:c.6129del , LRG_778t1:c.6129del	NP_000129.3:p.Ser2045ProfsTer14
NM_000138.5:c.6129del MANE Select	NP_000129.3:p.Ser2045ProfsTer14