Canonical Allele Identifier: CA2175487822

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412492_48412493delinsTC , CM000677.2:g.48412492_48412493delinsTC	GRCh38
NC_000015.9:g.48704689_48704690delinsTC , CM000677.1:g.48704689_48704690delinsTC	GRCh37
NC_000015.8:g.46491981_46491982delinsTC	NCBI36
NG_008805.2:g.238296_238297delinsGA , LRG_778:g.238296_238297delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1034+76_*1034+77delinsGA	ENSP00000453958.2:n.*1034+76_*1034+77delinsGA
ENST00000674301.2:c.*1739+76_*1739+77delinsGA	ENSP00000501333.2:n.*1739+76_*1739+77delinsGA
ENST00000682158.1:n.1607+76_1607+77delinsGA
ENST00000682170.1:n.2407+76_2407+77delinsGA
ENST00000682767.1:n.1523+76_1523+77delinsGA
ENST00000316623.10:c.8226+76_8226+77delinsGA MANE Select	ENSP00000325527.5:n.8226+76_8226+77delinsGA
ENST00000674301.1:c.3392+76_3392+77delinsGA	ENSP00000501333.1:n.3392+76_3392+77delinsGA
ENST00000316623.9:c.8226+76_8226+77delinsGA	ENSP00000325527.5:n.8226+76_8226+77delinsGA
ENST00000559133.5:c.3595+76_3595+77delinsGA
ENST00000561429.1:n.481+76_481+77delinsGA
NM_000138.4:c.8226+76_8226+77delinsGA , LRG_778t1:c.8226+76_8226+77delinsGA	NP_000129.3:n.8226+76_8226+77delinsGA
NM_000138.5:c.8226+76_8226+77delinsGA MANE Select	NP_000129.3:n.8226+76_8226+77delinsGA