Canonical Allele Identifier: CA658824292

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549313
• ClinVar RCV Id: RCV000663828
• dbSNP Id: rs1555395747
• MyVariant Identifiers: chr15:g.48737592del (hg19) ; chr15:g.48445395del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445395del , CM000677.2:g.48445395del	GRCh38
NC_000015.9:g.48737592del , CM000677.1:g.48737592del	GRCh37
NC_000015.8:g.46524884del	NCBI36
NG_008805.2:g.205394del , LRG_778:g.205394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5898del	ENSP00000453958.2:p.Asp1967MetfsTer13
ENST00000674301.2:c.5898del	ENSP00000501333.2:p.Asp1967MetfsTer13
ENST00000684448.1:n.4572del
ENST00000316623.10:c.5898del MANE Select	ENSP00000325527.5:p.Asp1967MetfsTer13
ENST00000674301.1:c.897del	ENSP00000501333.1:p.Asp300MetfsTer13
ENST00000316623.9:c.5898del	ENSP00000325527.5:p.Asp1967MetfsTer13
ENST00000537463.6:c.*1661del	ENSP00000440294.2:n.*1661del
ENST00000559133.5:c.1205del
ENST00000560820.1:n.18del
NM_000138.4:c.5898del , LRG_778t1:c.5898del	NP_000129.3:p.Asp1967MetfsTer13
NM_000138.5:c.5898del MANE Select	NP_000129.3:p.Asp1967MetfsTer13