Canonical Allele Identifier: CA2573150921

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1452107
• ClinVar RCV Id: RCV002035464
• dbSNP Id: rs2141237105

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434657_48434660del , CM000677.2:g.48434657_48434660del	GRCh38
NC_000015.9:g.48726854_48726857del , CM000677.1:g.48726854_48726857del	GRCh37
NC_000015.8:g.46514146_46514149del	NCBI36
NG_008805.2:g.216129_216132del , LRG_778:g.216129_216132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6550_6553del	ENSP00000453958.2:p.Val2184LeufsTer17
ENST00000674301.2:c.6550_6553del	ENSP00000501333.2:p.Val2184LeufsTer17
ENST00000682170.1:n.159_162del
ENST00000316623.10:c.6550_6553del MANE Select	ENSP00000325527.5:p.Val2184LeufsTer17
ENST00000674301.1:c.1549_1552del	ENSP00000501333.1:p.Val517LeufsTer17
ENST00000316623.9:c.6550_6553del	ENSP00000325527.5:p.Val2184LeufsTer17
ENST00000537463.6:c.*2313_*2316del	ENSP00000440294.2:n.*2313_*2316del
ENST00000559133.5:c.1857_1860del
NM_000138.4:c.6550_6553del , LRG_778t1:c.6550_6553del	NP_000129.3:p.Val2184LeufsTer17
NM_000138.5:c.6550_6553del MANE Select	NP_000129.3:p.Val2184LeufsTer17