Canonical Allele Identifier: CA1139663916

Gene: FBN1

Linked Data

• ClinVar Variation Id: 968106
• ClinVar RCV Id: RCV001243162
• dbSNP Id: rs2042946001

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421952_48421959delinsTCCAAC , CM000677.2:g.48421952_48421959delinsTCCAAC	GRCh38
NC_000015.9:g.48714149_48714156delinsTCCAAC , CM000677.1:g.48714149_48714156delinsTCCAAC	GRCh37
NC_000015.8:g.46501441_46501448delinsTCCAAC	NCBI36
NG_008805.2:g.228830_228837delinsGTTGGA , LRG_778:g.228830_228837delinsGTTGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*371_*378delinsGTTGGA	ENSP00000453958.2:n.*371_*378delinsGTTGGA...
ENST00000674301.2:c.*1076_*1083delinsGTTGGA	ENSP00000501333.2:n.*1076_*1083delinsGTTG...
ENST00000682170.1:n.1744_1751delinsGTTGGA
ENST00000682767.1:n.860_867delinsGTTGGA
ENST00000316623.10:c.7563_7570delinsGTTGGA MANE Select	ENSP00000325527.5:p.Cys2522LeufsTer3
ENST00000674301.1:c.2729_2736delinsGTTGGA	ENSP00000501333.1:n.2729_2736delinsGTTGGA...
ENST00000316623.9:c.7563_7570delinsGTTGGA	ENSP00000325527.5:p.Cys2522LeufsTer3
ENST00000559133.5:c.2932_2939delinsGTTGGA
NM_000138.4:c.7563_7570delinsGTTGGA , LRG_778t1:c.7563_7570delinsGTTGGA	NP_000129.3:p.Cys2522LeufsTer3
NM_000138.5:c.7563_7570delinsGTTGGA MANE Select	NP_000129.3:p.Cys2522LeufsTer3