Canonical Allele Identifier: CA2175526064

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494206_48494207delinsTC , CM000677.2:g.48494206_48494207delinsTC	GRCh38
NC_000015.9:g.48786403_48786404delinsTC , CM000677.1:g.48786403_48786404delinsTC	GRCh37
NC_000015.8:g.46573695_46573696delinsTC	NCBI36
NG_008805.2:g.156582_156583delinsGA , LRG_778:g.156582_156583delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2725_2726delinsGA	ENSP00000453958.2:p.Glu909=
ENST00000674301.2:c.2725_2726delinsGA	ENSP00000501333.2:p.Glu909=
ENST00000684448.1:n.1399_1400delinsGA
ENST00000316623.10:c.2725_2726delinsGA MANE Select	ENSP00000325527.5:p.Glu909=
ENST00000316623.9:c.2725_2726delinsGA	ENSP00000325527.5:p.Glu909=
ENST00000537463.6:c.637-19557_637-19556delinsGA	ENSP00000440294.2:n.637-19557_637-19556delinsGA
NM_000138.4:c.2725_2726delinsGA , LRG_778t1:c.2725_2726delinsGA	NP_000129.3:p.Glu909=
NM_000138.5:c.2725_2726delinsGA MANE Select	NP_000129.3:p.Glu909=