Canonical Allele Identifier: CA2499223009

Gene: FBN1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48505134_48505136del , CM000677.2:g.48505134_48505136del	GRCh38
NC_000015.9:g.48797331_48797333del , CM000677.1:g.48797331_48797333del	GRCh37
NC_000015.8:g.46584623_46584625del	NCBI36
NG_008805.2:g.145653_145655del , LRG_778:g.145653_145655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1849_1851del	ENSP00000453958.2:p.Cys617del
ENST00000674301.2:c.1849_1851del	ENSP00000501333.2:p.Cys617del
ENST00000684448.1:n.523_525del
ENST00000316623.10:c.1849_1851del MANE Select	ENSP00000325527.5:p.Cys617del
ENST00000316623.9:c.1849_1851del	ENSP00000325527.5:p.Cys617del
ENST00000537463.6:c.637-30486_637-30484del	ENSP00000440294.2:n.637-30486_637-30484del
NM_000138.4:c.1849_1851del , LRG_778t1:c.1849_1851del	NP_000129.3:p.Cys617del
NM_000138.5:c.1849_1851del MANE Select	NP_000129.3:p.Cys617del