Canonical Allele Identifier: CA658798330

Gene: FBN1

Linked Data

• ClinVar Variation Id: 503785
• ClinVar RCV Id: RCV000599311 ; RCV001868003
• dbSNP Id: rs794728323
• MyVariant Identifiers: chr15:g.48703259_48703260del (hg19) ; chr15:g.48411062_48411063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411063_48411064del , CM000677.2:g.48411063_48411064del	GRCh38
NC_000015.9:g.48703260_48703261del , CM000677.1:g.48703260_48703261del	GRCh37
NC_000015.8:g.46490552_46490553del	NCBI36
NG_008805.2:g.239726_239727del , LRG_778:g.239726_239727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1351_*1352del	ENSP00000453958.2:n.*1351_*1352del
ENST00000682158.1:n.1924_1925del
ENST00000682170.1:n.2724_2725del
ENST00000682767.1:n.1840_1841del
ENST00000316623.10:c.8543_8544del MANE Select	ENSP00000325527.5:p.Lys2848IlefsTer2
ENST00000316623.9:c.8543_8544del	ENSP00000325527.5:p.Lys2848IlefsTer2
ENST00000559133.5:c.3912_3913del
NM_000138.4:c.8543_8544del , LRG_778t1:c.8543_8544del	NP_000129.3:p.Lys2848IlefsTer2
NM_000138.5:c.8543_8544del MANE Select	NP_000129.3:p.Lys2848IlefsTer2