Canonical Allele Identifier: CA2695220337

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488372_48488374delinsCCG , CM000677.2:g.48488372_48488374delinsCCG	GRCh38
NC_000015.9:g.48780569_48780571delinsCCG , CM000677.1:g.48780569_48780571delinsCCG	GRCh37
NC_000015.8:g.46567861_46567863delinsCCG	NCBI36
NG_008805.2:g.162415_162417delinsCGG , LRG_778:g.162415_162417delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.3202_3204delinsCGG MANE Select	NP_000129.3:p.Cys1068Arg
ENST00000316623.10:c.3202_3204delinsCGG MANE Select	ENSP00000325527.5:p.Cys1068Arg
NM_000138.4:c.3202_3204delinsCGG , LRG_778t1:c.3202_3204delinsCGG	NP_000129.3:p.Cys1068Arg
ENST00000316623.9:c.3202_3204delinsCGG	ENSP00000325527.5:p.Cys1068Arg
ENST00000537463.6:c.637-13724_637-13722delinsCGG	ENSP00000440294.2:n.637-13724_637-13722delinsCGG
ENST00000559133.6:c.3202_3204delinsCGG	ENSP00000453958.2:p.Cys1068Arg
ENST00000674301.2:c.3202_3204delinsCGG	ENSP00000501333.2:p.Cys1068Arg
ENST00000684448.1:n.1876_1878delinsCGG