Canonical Allele Identifier: CA2175464957

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422164_48422165delinsTC , CM000677.2:g.48422164_48422165delinsTC	GRCh38
NC_000015.9:g.48714361_48714362delinsTC , CM000677.1:g.48714361_48714362delinsTC	GRCh37
NC_000015.8:g.46501653_46501654delinsTC	NCBI36
NG_008805.2:g.228624_228625delinsGA , LRG_778:g.228624_228625delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-97_*262-96delinsGA	ENSP00000453958.2:n.*262-97_*262-96delinsGA
ENST00000674301.2:c.*967-97_*967-96delinsGA	ENSP00000501333.2:n.*967-97_*967-96delinsGA
ENST00000682170.1:n.1635-97_1635-96delinsGA
ENST00000682767.1:n.751-97_751-96delinsGA
ENST00000316623.10:c.7454-97_7454-96delinsGA MANE Select	ENSP00000325527.5:n.7454-97_7454-96delinsGA
ENST00000674301.1:c.2620-97_2620-96delinsGA	ENSP00000501333.1:n.2620-97_2620-96delinsGA
ENST00000316623.9:c.7454-97_7454-96delinsGA	ENSP00000325527.5:n.7454-97_7454-96delinsGA
ENST00000559133.5:c.2823-97_2823-96delinsGA
NM_000138.4:c.7454-97_7454-96delinsGA , LRG_778t1:c.7454-97_7454-96delinsGA	NP_000129.3:n.7454-97_7454-96delinsGA
NM_000138.5:c.7454-97_7454-96delinsGA MANE Select	NP_000129.3:n.7454-97_7454-96delinsGA