Canonical Allele Identifier: CA2175508629

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441733_48441738delinsTTCCAC , CM000677.2:g.48441733_48441738delinsTTCCAC	GRCh38
NC_000015.9:g.48733930_48733935delinsTTCCAC , CM000677.1:g.48733930_48733935delinsTTCCAC	GRCh37
NC_000015.8:g.46521222_46521227delinsTTCCAC	NCBI36
NG_008805.2:g.209051_209056delinsGTGGAA , LRG_778:g.209051_209056delinsGTGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6146_6151delinsGTGGAA	ENSP00000453958.2:p.Ser2049=
ENST00000674301.2:c.6146_6151delinsGTGGAA	ENSP00000501333.2:p.Ser2049=
ENST00000316623.10:c.6146_6151delinsGTGGAA MANE Select	ENSP00000325527.5:p.Ser2049=
ENST00000674301.1:c.1145_1150delinsGTGGAA	ENSP00000501333.1:p.Ser382=
ENST00000316623.9:c.6146_6151delinsGTGGAA	ENSP00000325527.5:p.Ser2049=
ENST00000537463.6:c.*1909_*1914delinsGTGGAA	ENSP00000440294.2:n.*1909_*1914delinsGTGGAA
ENST00000559133.5:c.1453_1458delinsGTGGAA
ENST00000560820.1:n.266_271delinsGTGGAA
NM_000138.4:c.6146_6151delinsGTGGAA , LRG_778t1:c.6146_6151delinsGTGGAA	NP_000129.3:p.Ser2049=
NM_000138.5:c.6146_6151delinsGTGGAA MANE Select	NP_000129.3:p.Ser2049=