Canonical Allele Identifier: CA2175521053

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489676_48489681delinsTTGGAC , CM000677.2:g.48489676_48489681delinsTTGGAC	GRCh38
NC_000015.9:g.48781873_48781878delinsTTGGAC , CM000677.1:g.48781873_48781878delinsTTGGAC	GRCh37
NC_000015.8:g.46569165_46569170delinsTTGGAC	NCBI36
NG_008805.2:g.161108_161113delinsGTCCAA , LRG_778:g.161108_161113delinsGTCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+170_3082+175delinsGTCCAA	ENSP00000453958.2:n.3082+170_3082+175delinsGTCCAA
ENST00000674301.2:c.3082+170_3082+175delinsGTCCAA	ENSP00000501333.2:n.3082+170_3082+175delinsGTCCAA
ENST00000684448.1:n.1756+170_1756+175delinsGTCCAA
ENST00000316623.10:c.3082+170_3082+175delinsGTCCAA MANE Select	ENSP00000325527.5:n.3082+170_3082+175delinsGTCCAA
ENST00000316623.9:c.3082+170_3082+175delinsGTCCAA	ENSP00000325527.5:n.3082+170_3082+175delinsGTCCAA
ENST00000537463.6:c.637-15031_637-15026delinsGTCCAA	ENSP00000440294.2:n.637-15031_637-15026delinsGTCCAA
NM_000138.4:c.3082+170_3082+175delinsGTCCAA , LRG_778t1:c.3082+170_3082+175delinsGTCCAA	NP_000129.3:n.3082+170_3082+175delinsGTCCAA
NM_000138.5:c.3082+170_3082+175delinsGTCCAA MANE Select	NP_000129.3:n.3082+170_3082+175delinsGTCCAA