Canonical Allele Identifier: CA2175510039

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484186_48484190delinsTATTA , CM000677.2:g.48484186_48484190delinsTATTA	GRCh38
NC_000015.9:g.48776383_48776387delinsTATTA , CM000677.1:g.48776383_48776387delinsTATTA	GRCh37
NC_000015.8:g.46563675_46563679delinsTATTA	NCBI36
NG_008805.2:g.166599_166603delinsTAATA , LRG_778:g.166599_166603delinsTAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-247_3713-243delinsTAATA	ENSP00000453958.2:n.3713-247_3713-243delinsTAATA
ENST00000674301.2:c.3713-247_3713-243delinsTAATA	ENSP00000501333.2:n.3713-247_3713-243delinsTAATA
ENST00000684448.1:n.2387-247_2387-243delinsTAATA
ENST00000316623.10:c.3713-247_3713-243delinsTAATA MANE Select	ENSP00000325527.5:n.3713-247_3713-243delinsTAATA
ENST00000316623.9:c.3713-247_3713-243delinsTAATA	ENSP00000325527.5:n.3713-247_3713-243delinsTAATA
ENST00000537463.6:c.637-9540_637-9536delinsTAATA	ENSP00000440294.2:n.637-9540_637-9536delinsTAATA
NM_000138.4:c.3713-247_3713-243delinsTAATA , LRG_778t1:c.3713-247_3713-243delinsTAATA	NP_000129.3:n.3713-247_3713-243delinsTAATA
NM_000138.5:c.3713-247_3713-243delinsTAATA MANE Select	NP_000129.3:n.3713-247_3713-243delinsTAATA