Canonical Allele Identifier: CA2175521866

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490169_48490172delinsCATA , CM000677.2:g.48490169_48490172delinsCATA	GRCh38
NC_000015.9:g.48782366_48782369delinsCATA , CM000677.1:g.48782366_48782369delinsCATA	GRCh37
NC_000015.8:g.46569658_46569661delinsCATA	NCBI36
NG_008805.2:g.160617_160620delinsTATG , LRG_778:g.160617_160620delinsTATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2855-94_2855-91delinsTATG	ENSP00000453958.2:n.2855-94_2855-91delinsTATG
ENST00000674301.2:c.2855-94_2855-91delinsTATG	ENSP00000501333.2:n.2855-94_2855-91delinsTATG
ENST00000684448.1:n.1529-94_1529-91delinsTATG
ENST00000316623.10:c.2855-94_2855-91delinsTATG MANE Select	ENSP00000325527.5:n.2855-94_2855-91delinsTATG
ENST00000316623.9:c.2855-94_2855-91delinsTATG	ENSP00000325527.5:n.2855-94_2855-91delinsTATG
ENST00000537463.6:c.637-15522_637-15519delinsTATG	ENSP00000440294.2:n.637-15522_637-15519delinsTATG
NM_000138.4:c.2855-94_2855-91delinsTATG , LRG_778t1:c.2855-94_2855-91delinsTATG	NP_000129.3:n.2855-94_2855-91delinsTATG
NM_000138.5:c.2855-94_2855-91delinsTATG MANE Select	NP_000129.3:n.2855-94_2855-91delinsTATG