Canonical Allele Identifier: CA2695220181

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421673_48421674delinsAA , CM000677.2:g.48421673_48421674delinsAA	GRCh38
NC_000015.9:g.48713870_48713871delinsAA , CM000677.1:g.48713870_48713871delinsAA	GRCh37
NC_000015.8:g.46501162_46501163delinsAA	NCBI36
NG_008805.2:g.229115_229116delinsTT , LRG_778:g.229115_229116delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*391_*392delinsTT	ENSP00000453958.2:n.*391_*392delinsTT
ENST00000674301.2:c.*1096_*1097delinsTT	ENSP00000501333.2:n.*1096_*1097delinsTT
ENST00000682170.1:n.1764_1765delinsTT
ENST00000682767.1:n.880_881delinsTT
ENST00000316623.10:c.7583_7584delinsTT MANE Select	ENSP00000325527.5:p.Cys2528Phe
ENST00000674301.1:c.2749_2750delinsTT	ENSP00000501333.1:n.2749_2750delinsTT
ENST00000316623.9:c.7583_7584delinsTT	ENSP00000325527.5:p.Cys2528Phe
ENST00000559133.5:c.2952_2953delinsTT
NM_000138.4:c.7583_7584delinsTT , LRG_778t1:c.7583_7584delinsTT	NP_000129.3:p.Cys2528Phe
NM_000138.5:c.7583_7584delinsTT MANE Select	NP_000129.3:p.Cys2528Phe