Canonical Allele Identifier: CA2175515123

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487457_48487459delinsATG , CM000677.2:g.48487457_48487459delinsATG	GRCh38
NC_000015.9:g.48779654_48779656delinsATG , CM000677.1:g.48779654_48779656delinsATG	GRCh37
NC_000015.8:g.46566946_46566948delinsATG	NCBI36
NG_008805.2:g.163330_163332delinsCAT , LRG_778:g.163330_163332delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-22_3338-20delinsCAT	ENSP00000453958.2:n.3338-22_3338-20delinsCAT
ENST00000674301.2:c.3338-22_3338-20delinsCAT	ENSP00000501333.2:n.3338-22_3338-20delinsCAT
ENST00000684448.1:n.2012-22_2012-20delinsCAT
ENST00000316623.10:c.3338-22_3338-20delinsCAT MANE Select	ENSP00000325527.5:n.3338-22_3338-20delinsCAT
ENST00000316623.9:c.3338-22_3338-20delinsCAT	ENSP00000325527.5:n.3338-22_3338-20delinsCAT
ENST00000537463.6:c.637-12809_637-12807delinsCAT	ENSP00000440294.2:n.637-12809_637-12807delinsCAT
NM_000138.4:c.3338-22_3338-20delinsCAT , LRG_778t1:c.3338-22_3338-20delinsCAT	NP_000129.3:n.3338-22_3338-20delinsCAT
NM_000138.5:c.3338-22_3338-20delinsCAT MANE Select	NP_000129.3:n.3338-22_3338-20delinsCAT