Canonical Allele Identifier: CA2175529320

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508795_48508799delinsATTTC , CM000677.2:g.48508795_48508799delinsATTTC	GRCh38
NC_000015.9:g.48800992_48800996delinsATTTC , CM000677.1:g.48800992_48800996delinsATTTC	GRCh37
NC_000015.8:g.46588284_46588288delinsATTTC	NCBI36
NG_008805.2:g.141990_141994delinsGAAAT , LRG_778:g.141990_141994delinsGAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-95_1715-91delinsGAAAT	ENSP00000453958.2:n.1715-95_1715-91delinsGAAAT
ENST00000674301.2:c.1715-95_1715-91delinsGAAAT	ENSP00000501333.2:n.1715-95_1715-91delinsGAAAT
ENST00000684448.1:n.389-95_389-91delinsGAAAT
ENST00000316623.10:c.1715-95_1715-91delinsGAAAT MANE Select	ENSP00000325527.5:n.1715-95_1715-91delinsGAAAT
ENST00000316623.9:c.1715-95_1715-91delinsGAAAT	ENSP00000325527.5:n.1715-95_1715-91delinsGAAAT
ENST00000537463.6:c.636+28912_636+28916delinsGAAAT	ENSP00000440294.2:n.636+28912_636+28916delinsGAAAT
NM_000138.4:c.1715-95_1715-91delinsGAAAT , LRG_778t1:c.1715-95_1715-91delinsGAAAT	NP_000129.3:n.1715-95_1715-91delinsGAAAT
NM_000138.5:c.1715-95_1715-91delinsGAAAT MANE Select	NP_000129.3:n.1715-95_1715-91delinsGAAAT