Canonical Allele Identifier: CA2175537614

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520742_48520748delinsTTGGTTA , CM000677.2:g.48520742_48520748delinsTTGGTTA	GRCh38
NC_000015.9:g.48812939_48812945delinsTTGGTTA , CM000677.1:g.48812939_48812945delinsTTGGTTA	GRCh37
NC_000015.8:g.46600231_46600237delinsTTGGTTA	NCBI36
NG_008805.2:g.130041_130047delinsTAACCAA , LRG_778:g.130041_130047delinsTAACCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1058_1064delinsTAACCAA	ENSP00000453958.2:p.Ile353=
ENST00000674301.2:c.1058_1064delinsTAACCAA	ENSP00000501333.2:p.Ile353=
ENST00000316623.10:c.1058_1064delinsTAACCAA MANE Select	ENSP00000325527.5:p.Ile353=
ENST00000316623.9:c.1058_1064delinsTAACCAA	ENSP00000325527.5:p.Ile353=
ENST00000537463.6:c.636+16963_636+16969delinsTAACCAA	ENSP00000440294.2:n.636+16963_636+16969delinsTAACCAA
NM_000138.4:c.1058_1064delinsTAACCAA , LRG_778t1:c.1058_1064delinsTAACCAA	NP_000129.3:p.Ile353=
NM_000138.5:c.1058_1064delinsTAACCAA MANE Select	NP_000129.3:p.Ile353=