Canonical Allele Identifier: CA891843843

Gene: FBN1

Linked Data

• ClinVar Variation Id: 567615
• ClinVar RCV Id: RCV000687755
• dbSNP Id: rs1566910954
• MyVariant Identifiers: chr15:g.48784774_48784776del (hg19) ; chr15:g.48492577_48492579del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492579_48492581del , CM000677.2:g.48492579_48492581del	GRCh38
NC_000015.9:g.48784776_48784778del , CM000677.1:g.48784776_48784778del	GRCh37
NC_000015.8:g.46572068_46572070del	NCBI36
NG_008805.2:g.158210_158212del , LRG_778:g.158210_158212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2736_2738del	ENSP00000453958.2:p.Asp912del
ENST00000674301.2:c.2736_2738del	ENSP00000501333.2:p.Asp912del
ENST00000684448.1:n.1410_1412del
ENST00000316623.10:c.2736_2738del MANE Select	ENSP00000325527.5:p.Asp912del
ENST00000316623.9:c.2736_2738del	ENSP00000325527.5:p.Asp912del
ENST00000537463.6:c.637-17929_637-17927del	ENSP00000440294.2:n.637-17929_637-17927del
NM_000138.4:c.2736_2738del , LRG_778t1:c.2736_2738del	NP_000129.3:p.Asp912del
NM_000138.5:c.2736_2738del MANE Select	NP_000129.3:p.Asp912del