Canonical Allele Identifier: CA2175502809

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430767_48430769delinsTAC , CM000677.2:g.48430767_48430769delinsTAC	GRCh38
NC_000015.9:g.48722964_48722966delinsTAC , CM000677.1:g.48722964_48722966delinsTAC	GRCh37
NC_000015.8:g.46510256_46510258delinsTAC	NCBI36
NG_008805.2:g.220020_220022delinsGTA , LRG_778:g.220020_220022delinsGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6773_6775delinsGTA	ENSP00000453958.2:p.Cys2258=
ENST00000674301.2:c.*224_*226delinsGTA	ENSP00000501333.2:n.*224_*226delinsGTA
ENST00000682170.1:n.382_384delinsGTA
ENST00000316623.10:c.6773_6775delinsGTA MANE Select	ENSP00000325527.5:p.Cys2258=
ENST00000674301.1:c.1877_1879delinsGTA	ENSP00000501333.1:n.1877_1879delinsGTA
ENST00000316623.9:c.6773_6775delinsGTA	ENSP00000325527.5:p.Cys2258=
ENST00000537463.6:c.*2536_*2538delinsGTA	ENSP00000440294.2:n.*2536_*2538delinsGTA
ENST00000559133.5:c.2080_2082delinsGTA
ENST00000560720.1:n.60_62delinsGTA
NM_000138.4:c.6773_6775delinsGTA , LRG_778t1:c.6773_6775delinsGTA	NP_000129.3:p.Cys2258=
NM_000138.5:c.6773_6775delinsGTA MANE Select	NP_000129.3:p.Cys2258=