Canonical Allele Identifier: CA2573150790

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1399454
• ClinVar RCV Id: RCV001917689
• dbSNP Id: rs2141336256

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520803_48520804del , CM000677.2:g.48520803_48520804del	GRCh38
NC_000015.9:g.48813000_48813001del , CM000677.1:g.48813000_48813001del	GRCh37
NC_000015.8:g.46600292_46600293del	NCBI36
NG_008805.2:g.129986_129987del , LRG_778:g.129986_129987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1003_1004del	ENSP00000453958.2:p.Tyr335LeufsTer12
ENST00000674301.2:c.1003_1004del	ENSP00000501333.2:p.Tyr335LeufsTer12
ENST00000316623.10:c.1003_1004del MANE Select	ENSP00000325527.5:p.Tyr335LeufsTer12
ENST00000316623.9:c.1003_1004del	ENSP00000325527.5:p.Tyr335LeufsTer12
ENST00000537463.6:c.636+16908_636+16909del	ENSP00000440294.2:n.636+16908_636+16909del
NM_000138.4:c.1003_1004del , LRG_778t1:c.1003_1004del	NP_000129.3:p.Tyr335LeufsTer12
NM_000138.5:c.1003_1004del MANE Select	NP_000129.3:p.Tyr335LeufsTer12