Canonical Allele Identifier: CA2175521623

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490042_48490049delinsTCCTCGTA , CM000677.2:g.48490042_48490049delinsTCCTCGTA	GRCh38
NC_000015.9:g.48782239_48782246delinsTCCTCGTA , CM000677.1:g.48782239_48782246delinsTCCTCGTA	GRCh37
NC_000015.8:g.46569531_46569538delinsTCCTCGTA	NCBI36
NG_008805.2:g.160740_160747delinsTACGAGGA , LRG_778:g.160740_160747delinsTACGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2884_2891delinsTACGAGGA	ENSP00000453958.2:p.Tyr962=
ENST00000674301.2:c.2884_2891delinsTACGAGGA	ENSP00000501333.2:p.Tyr962=
ENST00000684448.1:n.1558_1565delinsTACGAGGA
ENST00000316623.10:c.2884_2891delinsTACGAGGA MANE Select	ENSP00000325527.5:p.Tyr962=
ENST00000316623.9:c.2884_2891delinsTACGAGGA	ENSP00000325527.5:p.Tyr962=
ENST00000537463.6:c.637-15399_637-15392delinsTACGAGGA	ENSP00000440294.2:n.637-15399_637-15392delinsTACGAGGA
NM_000138.4:c.2884_2891delinsTACGAGGA , LRG_778t1:c.2884_2891delinsTACGAGGA	NP_000129.3:p.Tyr962=
NM_000138.5:c.2884_2891delinsTACGAGGA MANE Select	NP_000129.3:p.Tyr962=