Canonical Allele Identifier: CA658824453

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549119
• ClinVar RCV Id: RCV000663587
• dbSNP Id: rs1555398833
• MyVariant Identifiers: chr15:g.48782240_48782246del (hg19) ; chr15:g.48490043_48490049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490047_48490053del , CM000677.2:g.48490047_48490053del	GRCh38
NC_000015.9:g.48782244_48782250del , CM000677.1:g.48782244_48782250del	GRCh37
NC_000015.8:g.46569536_46569542del	NCBI36
NG_008805.2:g.160740_160746del , LRG_778:g.160740_160746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2884_2890del	ENSP00000453958.2:p.Tyr962ThrfsTer?
ENST00000674301.2:c.2884_2890del	ENSP00000501333.2:p.Tyr962ThrfsTer?
ENST00000684448.1:n.1558_1564del
ENST00000316623.10:c.2884_2890del MANE Select	ENSP00000325527.5:p.Tyr962ThrfsTer?
ENST00000316623.9:c.2884_2890del	ENSP00000325527.5:p.Tyr962ThrfsTer?
ENST00000537463.6:c.637-15399_637-15393del	ENSP00000440294.2:n.637-15399_637-15393del
NM_000138.4:c.2884_2890del , LRG_778t1:c.2884_2890del	NP_000129.3:p.Tyr962ThrfsTer?
NM_000138.5:c.2884_2890del MANE Select	NP_000129.3:p.Tyr962ThrfsTer?