Canonical Allele Identifier: CA2175486782

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411346_48411347delinsCA , CM000677.2:g.48411346_48411347delinsCA	GRCh38
NC_000015.9:g.48703543_48703544delinsCA , CM000677.1:g.48703543_48703544delinsCA	GRCh37
NC_000015.8:g.46490835_46490836delinsCA	NCBI36
NG_008805.2:g.239442_239443delinsTG , LRG_778:g.239442_239443delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1067_*1068delinsTG	ENSP00000453958.2:n.*1067_*1068delinsTG
ENST00000674301.2:c.*1772_*1773delinsTG	ENSP00000501333.2:n.*1772_*1773delinsTG
ENST00000682158.1:n.1640_1641delinsTG
ENST00000682170.1:n.2440_2441delinsTG
ENST00000682767.1:n.1556_1557delinsTG
ENST00000316623.10:c.8259_8260delinsTG MANE Select	ENSP00000325527.5:p.Leu2753=
ENST00000674301.1:c.3425_3426delinsTG	ENSP00000501333.1:n.3425_3426delinsTG
ENST00000316623.9:c.8259_8260delinsTG	ENSP00000325527.5:p.Leu2753=
ENST00000559133.5:c.3628_3629delinsTG
ENST00000561429.1:n.514_515delinsTG
NM_000138.4:c.8259_8260delinsTG , LRG_778t1:c.8259_8260delinsTG	NP_000129.3:p.Leu2753=
NM_000138.5:c.8259_8260delinsTG MANE Select	NP_000129.3:p.Leu2753=