Canonical Allele Identifier: CA2175493312

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445709_48445712delinsCATT , CM000677.2:g.48445709_48445712delinsCATT	GRCh38
NC_000015.9:g.48737906_48737909delinsCATT , CM000677.1:g.48737906_48737909delinsCATT	GRCh37
NC_000015.8:g.46525198_46525201delinsCATT	NCBI36
NG_008805.2:g.205077_205080delinsAATG , LRG_778:g.205077_205080delinsAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-208_5789-205delinsAATG	ENSP00000453958.2:n.5789-208_5789-205delinsAATG
ENST00000674301.2:c.5789-208_5789-205delinsAATG	ENSP00000501333.2:n.5789-208_5789-205delinsAATG
ENST00000684448.1:n.4463-208_4463-205delinsAATG
ENST00000316623.10:c.5789-208_5789-205delinsAATG MANE Select	ENSP00000325527.5:n.5789-208_5789-205delinsAATG
ENST00000674301.1:c.788-208_788-205delinsAATG	ENSP00000501333.1:n.788-208_788-205delinsAATG
ENST00000316623.9:c.5789-208_5789-205delinsAATG	ENSP00000325527.5:n.5789-208_5789-205delinsAATG
ENST00000537463.6:c.*1552-208_*1552-205delinsAATG	ENSP00000440294.2:n.*1552-208_*1552-205delinsAATG
ENST00000559133.5:c.1096-208_1096-205delinsAATG
NM_000138.4:c.5789-208_5789-205delinsAATG , LRG_778t1:c.5789-208_5789-205delinsAATG	NP_000129.3:n.5789-208_5789-205delinsAATG
NM_000138.5:c.5789-208_5789-205delinsAATG MANE Select	NP_000129.3:n.5789-208_5789-205delinsAATG