Canonical Allele Identifier: CA10587841

Gene: FBN1

Linked Data

• ClinVar Variation Id: 264427
• ClinVar RCV Id: RCV000249715
• dbSNP Id: rs886039154
• MyVariant Identifiers: chr15:g.48782224del (hg19) ; chr15:g.48490027del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490027del , CM000677.2:g.48490027del	GRCh38
NC_000015.9:g.48782224del , CM000677.1:g.48782224del	GRCh37
NC_000015.8:g.46569516del	NCBI36
NG_008805.2:g.160762del , LRG_778:g.160762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2906del	ENSP00000453958.2:p.Leu969ArgfsTer30
ENST00000674301.2:c.2906del	ENSP00000501333.2:p.Leu969ArgfsTer30
ENST00000684448.1:n.1580del
ENST00000316623.10:c.2906del MANE Select	ENSP00000325527.5:p.Leu969ArgfsTer30
ENST00000316623.9:c.2906del	ENSP00000325527.5:p.Leu969ArgfsTer30
ENST00000537463.6:c.637-15377del	ENSP00000440294.2:n.637-15377del
NM_000138.4:c.2906del , LRG_778t1:c.2906del	NP_000129.3:p.Leu969ArgfsTer30
NM_000138.5:c.2906del MANE Select	NP_000129.3:p.Leu969ArgfsTer30