Canonical Allele Identifier: CA658656484

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457239
• ClinVar RCV Id: RCV000535766
• dbSNP Id: rs1555395483
• MyVariant Identifiers: chr15:g.48734025_48734033del (hg19) ; chr15:g.48441828_48441836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441830_48441838del , CM000677.2:g.48441830_48441838del	GRCh38
NC_000015.9:g.48734027_48734035del , CM000677.1:g.48734027_48734035del	GRCh37
NC_000015.8:g.46521319_46521327del	NCBI36
NG_008805.2:g.208953_208961del , LRG_778:g.208953_208961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6048_6056del	ENSP00000453958.2:p.Cys2017_Glu2019del
ENST00000674301.2:c.6048_6056del	ENSP00000501333.2:p.Cys2017_Glu2019del
ENST00000316623.10:c.6048_6056del MANE Select	ENSP00000325527.5:p.Cys2017_Glu2019del
ENST00000674301.1:c.1047_1055del	ENSP00000501333.1:p.Cys350_Glu352del
ENST00000316623.9:c.6048_6056del	ENSP00000325527.5:p.Cys2017_Glu2019del
ENST00000537463.6:c.*1811_*1819del	ENSP00000440294.2:n.*1811_*1819del
ENST00000559133.5:c.1355_1363del
ENST00000560820.1:n.168_176del
NM_000138.4:c.6048_6056del , LRG_778t1:c.6048_6056del	NP_000129.3:p.Cys2017_Glu2019del
NM_000138.5:c.6048_6056del MANE Select	NP_000129.3:p.Cys2017_Glu2019del