Canonical Allele Identifier: CA2695220242

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445501_48445503del , CM000677.2:g.48445501_48445503del	GRCh38
NC_000015.9:g.48737698_48737700del , CM000677.1:g.48737698_48737700del	GRCh37
NC_000015.8:g.46524990_46524992del	NCBI36
NG_008805.2:g.205288_205290del , LRG_778:g.205288_205290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5792_5794del	ENSP00000453958.2:p.Val1931del
ENST00000674301.2:c.5792_5794del	ENSP00000501333.2:p.Val1931del
ENST00000684448.1:n.4466_4468del
ENST00000316623.10:c.5792_5794del MANE Select	ENSP00000325527.5:p.Val1931del
ENST00000674301.1:c.791_793del	ENSP00000501333.1:p.Val264del
ENST00000316623.9:c.5792_5794del	ENSP00000325527.5:p.Val1931del
ENST00000537463.6:c.*1555_*1557del	ENSP00000440294.2:n.*1555_*1557del
ENST00000559133.5:c.1099_1101del
NM_000138.4:c.5792_5794del , LRG_778t1:c.5792_5794del	NP_000129.3:p.Val1931del
NM_000138.5:c.5792_5794del MANE Select	NP_000129.3:p.Val1931del