Canonical Allele Identifier: CA2175513331

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445174_48445210delinsATATATATATGTATATATATATACATATATATATGTG , CM000677.2:g.48445174_48445210delinsATATATATATGTATATATATATACATATATATATGTG	GRCh38
NC_000015.9:g.48737371_48737407delinsATATATATATGTATATATATATACATATATATATGTG , CM000677.1:g.48737371_48737407delinsATATATATATGTATATATATATACATATATATATGTG	GRCh37
NC_000015.8:g.46524663_46524699delinsATATATATATGTATATATATATACATATATATATGTG	NCBI36
NG_008805.2:g.205579_205615delinsCACATATATATATGTATATATATATACATATATATAT , LRG_778:g.205579_205615delinsCACATATATATATGTATATATATATACATATATATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+166_5917+202delinsCACATATATATATGTATATATATATACATATATATAT	ENSP00000453958.2:n.5917+166_5917+202delinsCACATATATATATGTATA...
ENST00000674301.2:c.5917+166_5917+202delinsCACATATATATATGTATATATATATACATATATATAT	ENSP00000501333.2:n.5917+166_5917+202delinsCACATATATATATGTATA...
ENST00000684448.1:n.4591+166_4591+202delinsCACATATATATATGTATATATATATACATATATATAT
ENST00000316623.10:c.5917+166_5917+202delinsCACATATATATATGTATATATATATACATATATATAT MANE Select	ENSP00000325527.5:n.5917+166_5917+202delinsCACATATATATATGTATA...
ENST00000674301.1:c.916+166_916+202delinsCACATATATATATGTATATATATATACATATATATAT	ENSP00000501333.1:n.916+166_916+202delinsCACATATATATATGTATATA...
ENST00000316623.9:c.5917+166_5917+202delinsCACATATATATATGTATATATATATACATATATATAT	ENSP00000325527.5:n.5917+166_5917+202delinsCACATATATATATGTATA...
ENST00000537463.6:c.*1680+166_*1680+202delinsCACATATATATATGTATATATATATACATATATATAT	ENSP00000440294.2:n.*1680+166_*1680+202delinsCACATATATATATGTA...
ENST00000559133.5:c.1224+166_1224+202delinsCACATATATATATGTATATATATATACATATATATAT
ENST00000560820.1:n.37+166_37+202delinsCACATATATATATGTATATATATATACATATATATAT
NM_000138.4:c.5917+166_5917+202delinsCACATATATATATGTATATATATATACATATATATAT , LRG_778t1:c.5917+166_5917+202delinsCACATATATATATGTATATATATATACATATATATAT	NP_000129.3:n.5917+166_5917+202delinsCACATATATATATGTATATATATA...
NM_000138.5:c.5917+166_5917+202delinsCACATATATATATGTATATATATATACATATATATAT MANE Select	NP_000129.3:n.5917+166_5917+202delinsCACATATATATATGTATATATATA...