Canonical Allele Identifier: CA2695220637

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474533_48474534delinsTT , CM000677.2:g.48474533_48474534delinsTT	GRCh38
NC_000015.9:g.48766730_48766731delinsTT , CM000677.1:g.48766730_48766731delinsTT	GRCh37
NC_000015.8:g.46554022_46554023delinsTT	NCBI36
NG_008805.2:g.176255_176256delinsAA , LRG_778:g.176255_176256delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4081_4082delinsAA	ENSP00000453958.2:p.Cys1361Asn
ENST00000674301.2:c.4081_4082delinsAA	ENSP00000501333.2:p.Cys1361Asn
ENST00000684448.1:n.2755_2756delinsAA
ENST00000316623.10:c.4081_4082delinsAA MANE Select	ENSP00000325527.5:p.Cys1361Asn
ENST00000316623.9:c.4081_4082delinsAA	ENSP00000325527.5:p.Cys1361Asn
ENST00000537463.6:c.753_754delinsAA	ENSP00000440294.2:p.Ser251_Ala252delinsArgThr
NM_000138.4:c.4081_4082delinsAA , LRG_778t1:c.4081_4082delinsAA	NP_000129.3:p.Cys1361Asn
NM_000138.5:c.4081_4082delinsAA MANE Select	NP_000129.3:p.Cys1361Asn