Canonical Allele Identifier: CA2175492875

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445499_48445512delinsCAACATCTGCAGAA , CM000677.2:g.48445499_48445512delinsCAACATCTGCAGAA	GRCh38
NC_000015.9:g.48737696_48737709delinsCAACATCTGCAGAA , CM000677.1:g.48737696_48737709delinsCAACATCTGCAGAA	GRCh37
NC_000015.8:g.46524988_46525001delinsCAACATCTGCAGAA	NCBI36
NG_008805.2:g.205277_205290delinsTTCTGCAGATGTTG , LRG_778:g.205277_205290delinsTTCTGCAGATGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-8_5794delinsTTCTGCAGATGTTG
ENST00000674301.2:c.5789-8_5794delinsTTCTGCAGATGTTG
ENST00000684448.1:n.4463-8_4468delinsTTCTGCAGATGTTG
ENST00000316623.10:c.5789-8_5794delinsTTCTGCAGATGTTG
ENST00000674301.1:c.788-8_793delinsTTCTGCAGATGTTG
ENST00000316623.9:c.5789-8_5794delinsTTCTGCAGATGTTG
ENST00000537463.6:c.*1552-8_*1557delinsTTCTGCAGATGTTG
ENST00000559133.5:c.1096-8_1101delinsTTCTGCAGATGTTG
NM_000138.4:c.5789-8_5794delinsTTCTGCAGATGTTG , LRG_778t1:c.5789-8_5794delinsTTCTGCAGATGTTG
NM_000138.5:c.5789-8_5794delinsTTCTGCAGATGTTG