Canonical Allele Identifier: CA2740096609

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3063908
• ClinVar RCV Id: RCV003988496

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415518_48415522del , CM000677.2:g.48415518_48415522del	GRCh38
NC_000015.9:g.48707715_48707719del , CM000677.1:g.48707715_48707719del	GRCh37
NC_000015.8:g.46495007_46495011del	NCBI36
NG_008805.2:g.235267_235271del , LRG_778:g.235267_235271del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*859+14_*859+18del	ENSP00000453958.2:n.*859+14_*859+18del
ENST00000674301.2:c.*1564+14_*1564+18del	ENSP00000501333.2:n.*1564+14_*1564+18del
ENST00000682158.1:n.1432+14_1432+18del
ENST00000682170.1:n.2232+14_2232+18del
ENST00000682767.1:n.1348+14_1348+18del
ENST00000316623.10:c.8051+14_8051+18del MANE Select	ENSP00000325527.5:n.8051+14_8051+18del
ENST00000674301.1:c.3217+14_3217+18del	ENSP00000501333.1:n.3217+14_3217+18del
ENST00000316623.9:c.8051+14_8051+18del	ENSP00000325527.5:n.8051+14_8051+18del
ENST00000559133.5:c.3420+14_3420+18del
ENST00000561429.1:n.306+14_306+18del
NM_000138.4:c.8051+14_8051+18del , LRG_778t1:c.8051+14_8051+18del	NP_000129.3:n.8051+14_8051+18del
NM_000138.5:c.8051+14_8051+18del MANE Select	NP_000129.3:n.8051+14_8051+18del