Canonical Allele Identifier: CA2175486956

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411499_48411508delinsCAATATTGAA , CM000677.2:g.48411499_48411508delinsCAATATTGAA	GRCh38
NC_000015.9:g.48703696_48703705delinsCAATATTGAA , CM000677.1:g.48703696_48703705delinsCAATATTGAA	GRCh37
NC_000015.8:g.46490988_46490997delinsCAATATTGAA	NCBI36
NG_008805.2:g.239281_239290delinsTTCAATATTG , LRG_778:g.239281_239290delinsTTCAATATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-129_*1035-120delinsTTCAATATTG	ENSP00000453958.2:n.*1035-129_*1035-120delinsTTCAATATTG
ENST00000674301.2:c.*1740-129_*1740-120delinsTTCAATATTG	ENSP00000501333.2:n.*1740-129_*1740-120delinsTTCAATATTG
ENST00000682158.1:n.1608-129_1608-120delinsTTCAATATTG
ENST00000682170.1:n.2408-129_2408-120delinsTTCAATATTG
ENST00000682767.1:n.1524-129_1524-120delinsTTCAATATTG
ENST00000316623.10:c.8227-129_8227-120delinsTTCAATATTG MANE Select	ENSP00000325527.5:n.8227-129_8227-120delinsTTCAATATTG
ENST00000674301.1:c.3393-129_3393-120delinsTTCAATATTG	ENSP00000501333.1:n.3393-129_3393-120delinsTTCAATATTG
ENST00000316623.9:c.8227-129_8227-120delinsTTCAATATTG	ENSP00000325527.5:n.8227-129_8227-120delinsTTCAATATTG
ENST00000559133.5:c.3596-129_3596-120delinsTTCAATATTG
ENST00000561429.1:n.482-129_482-120delinsTTCAATATTG
NM_000138.4:c.8227-129_8227-120delinsTTCAATATTG , LRG_778t1:c.8227-129_8227-120delinsTTCAATATTG	NP_000129.3:n.8227-129_8227-120delinsTTCAATATTG
NM_000138.5:c.8227-129_8227-120delinsTTCAATATTG MANE Select	NP_000129.3:n.8227-129_8227-120delinsTTCAATATTG