Canonical Allele Identifier: CA2580089573

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2027928
• ClinVar RCV Id: RCV002866862

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483927_48483938del , CM000677.2:g.48483927_48483938del	GRCh38
NC_000015.9:g.48776124_48776135del , CM000677.1:g.48776124_48776135del	GRCh37
NC_000015.8:g.46563416_46563427del	NCBI36
NG_008805.2:g.166854_166865del , LRG_778:g.166854_166865del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3721_3732del	ENSP00000453958.2:p.Glu1241_Asp1244del
ENST00000674301.2:c.3721_3732del	ENSP00000501333.2:p.Glu1241_Asp1244del
ENST00000684448.1:n.2395_2406del
ENST00000316623.10:c.3721_3732del MANE Select	ENSP00000325527.5:p.Glu1241_Asp1244del
ENST00000316623.9:c.3721_3732del	ENSP00000325527.5:p.Glu1241_Asp1244del
ENST00000537463.6:c.637-9285_637-9274del	ENSP00000440294.2:n.637-9285_637-9274del
NM_000138.4:c.3721_3732del , LRG_778t1:c.3721_3732del	NP_000129.3:p.Glu1241_Asp1244del
NM_000138.5:c.3721_3732del MANE Select	NP_000129.3:p.Glu1241_Asp1244del