Canonical Allele Identifier: CA2175508786

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441763_48441765delinsGAC , CM000677.2:g.48441763_48441765delinsGAC	GRCh38
NC_000015.9:g.48733960_48733962delinsGAC , CM000677.1:g.48733960_48733962delinsGAC	GRCh37
NC_000015.8:g.46521252_46521254delinsGAC	NCBI36
NG_008805.2:g.209024_209026delinsGTC , LRG_778:g.209024_209026delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6119_6121delinsGTC	ENSP00000453958.2:p.Cys2040=
ENST00000674301.2:c.6119_6121delinsGTC	ENSP00000501333.2:p.Cys2040=
ENST00000316623.10:c.6119_6121delinsGTC MANE Select	ENSP00000325527.5:p.Cys2040=
ENST00000674301.1:c.1118_1120delinsGTC	ENSP00000501333.1:p.Cys373=
ENST00000316623.9:c.6119_6121delinsGTC	ENSP00000325527.5:p.Cys2040=
ENST00000537463.6:c.*1882_*1884delinsGTC	ENSP00000440294.2:n.*1882_*1884delinsGTC
ENST00000559133.5:c.1426_1428delinsGTC
ENST00000560820.1:n.239_241delinsGTC
NM_000138.4:c.6119_6121delinsGTC , LRG_778t1:c.6119_6121delinsGTC	NP_000129.3:p.Cys2040=
NM_000138.5:c.6119_6121delinsGTC MANE Select	NP_000129.3:p.Cys2040=