Canonical Allele Identifier: CA2175489324

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415535_48415536delinsCC , CM000677.2:g.48415535_48415536delinsCC	GRCh38
NC_000015.9:g.48707732_48707733delinsCC , CM000677.1:g.48707732_48707733delinsCC	GRCh37
NC_000015.8:g.46495024_46495025delinsCC	NCBI36
NG_008805.2:g.235253_235254delinsGG , LRG_778:g.235253_235254delinsGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*859_*859+1delinsGG
ENST00000674301.2:c.*1564_*1564+1delinsGG
ENST00000682158.1:n.1432_1432+1delinsGG
ENST00000682170.1:n.2232_2232+1delinsGG
ENST00000682767.1:n.1348_1348+1delinsGG
ENST00000316623.10:c.8051_8051+1delinsGG
ENST00000674301.1:c.3217_3217+1delinsGG
ENST00000316623.9:c.8051_8051+1delinsGG
ENST00000559133.5:c.3420_3420+1delinsGG
ENST00000561429.1:n.306_306+1delinsGG
NM_000138.4:c.8051_8051+1delinsGG , LRG_778t1:c.8051_8051+1delinsGG
NM_000138.5:c.8051_8051+1delinsGG