Canonical Allele Identifier: CA658824452

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549120
• ClinVar RCV Id: RCV000663588
• dbSNP Id: rs1555398826
• MyVariant Identifiers: chr15:g.48782217del (hg19) ; chr15:g.48490020del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490021del , CM000677.2:g.48490021del	GRCh38
NC_000015.9:g.48782218del , CM000677.1:g.48782218del	GRCh37
NC_000015.8:g.46569510del	NCBI36
NG_008805.2:g.160769del , LRG_778:g.160769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2913del	ENSP00000453958.2:p.Ile971MetfsTer28
ENST00000674301.2:c.2913del	ENSP00000501333.2:p.Ile971MetfsTer28
ENST00000684448.1:n.1587del
ENST00000316623.10:c.2913del MANE Select	ENSP00000325527.5:p.Ile971MetfsTer28
ENST00000316623.9:c.2913del	ENSP00000325527.5:p.Ile971MetfsTer28
ENST00000537463.6:c.637-15370del	ENSP00000440294.2:n.637-15370del
NM_000138.4:c.2913del , LRG_778t1:c.2913del	NP_000129.3:p.Ile971MetfsTer28
NM_000138.5:c.2913del MANE Select	NP_000129.3:p.Ile971MetfsTer28