Canonical Allele Identifier: CA2499223018

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48644614_48644615delinsAA , CM000677.2:g.48644614_48644615delinsAA	GRCh38
NC_000015.9:g.48936811_48936812delinsAA , CM000677.1:g.48936811_48936812delinsAA	GRCh37
NC_000015.8:g.46724103_46724104delinsAA	NCBI36
NG_008805.2:g.6174_6175delinsTT , LRG_778:g.6174_6175delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.155_156delinsTT MANE Select	NP_000129.3:p.Ala52Val
ENST00000316623.10:c.155_156delinsTT MANE Select	ENSP00000325527.5:p.Ala52Val
NM_000138.4:c.155_156delinsTT , LRG_778t1:c.155_156delinsTT	NP_000129.3:p.Ala52Val
ENST00000316623.9:c.155_156delinsTT	ENSP00000325527.5:p.Ala52Val
ENST00000537463.6:c.155_156delinsTT	ENSP00000440294.2:p.Ala52Val
ENST00000558230.1:n.218_219delinsTT
ENST00000559133.6:c.155_156delinsTT	ENSP00000453958.2:p.Ala52Val
ENST00000560355.1:c.155_156delinsTT	ENSP00000453901.1:p.Ala52Val
ENST00000674301.2:c.155_156delinsTT	ENSP00000501333.2:p.Ala52Val