Canonical Allele Identifier: CA2175512901

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445106_48445110delinsTTATA , CM000677.2:g.48445106_48445110delinsTTATA	GRCh38
NC_000015.9:g.48737303_48737307delinsTTATA , CM000677.1:g.48737303_48737307delinsTTATA	GRCh37
NC_000015.8:g.46524595_46524599delinsTTATA	NCBI36
NG_008805.2:g.205679_205683delinsTATAA , LRG_778:g.205679_205683delinsTATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+266_5917+270delinsTATAA	ENSP00000453958.2:n.5917+266_5917+270delinsTATAA
ENST00000674301.2:c.5917+266_5917+270delinsTATAA	ENSP00000501333.2:n.5917+266_5917+270delinsTATAA
ENST00000684448.1:n.4591+266_4591+270delinsTATAA
ENST00000316623.10:c.5917+266_5917+270delinsTATAA MANE Select	ENSP00000325527.5:n.5917+266_5917+270delinsTATAA
ENST00000674301.1:c.916+266_916+270delinsTATAA	ENSP00000501333.1:n.916+266_916+270delinsTATAA
ENST00000316623.9:c.5917+266_5917+270delinsTATAA	ENSP00000325527.5:n.5917+266_5917+270delinsTATAA
ENST00000537463.6:c.*1680+266_*1680+270delinsTATAA	ENSP00000440294.2:n.*1680+266_*1680+270delinsTATAA
ENST00000559133.5:c.1224+266_1224+270delinsTATAA
ENST00000560820.1:n.37+266_37+270delinsTATAA
NM_000138.4:c.5917+266_5917+270delinsTATAA , LRG_778t1:c.5917+266_5917+270delinsTATAA	NP_000129.3:n.5917+266_5917+270delinsTATAA
NM_000138.5:c.5917+266_5917+270delinsTATAA MANE Select	NP_000129.3:n.5917+266_5917+270delinsTATAA