Canonical Allele Identifier: CA2499223002

Gene: FBN1

Linked Data

• dbSNP Id: rs2141302478

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494251_48494252insTAAAG , CM000677.2:g.48494251_48494252insTAAAG	GRCh38
NC_000015.9:g.48786448_48786449insTAAAG , CM000677.1:g.48786448_48786449insTAAAG	GRCh37
NC_000015.8:g.46573740_46573741insTAAAG	NCBI36
NG_008805.2:g.156538_156539insTTTAC , LRG_778:g.156538_156539insTTTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2681_2682insTTTAC	ENSP00000453958.2:p.Ile895LeufsTer19
ENST00000674301.2:c.2681_2682insTTTAC	ENSP00000501333.2:p.Ile895LeufsTer19
ENST00000684448.1:n.1355_1356insTTTAC
ENST00000316623.10:c.2681_2682insTTTAC MANE Select	ENSP00000325527.5:p.Ile895LeufsTer19
ENST00000316623.9:c.2681_2682insTTTAC	ENSP00000325527.5:p.Ile895LeufsTer19
ENST00000537463.6:c.637-19601_637-19600insTTTAC	ENSP00000440294.2:n.637-19601_637-19600insTTTAC
NM_000138.4:c.2681_2682insTTTAC , LRG_778t1:c.2681_2682insTTTAC	NP_000129.3:p.Ile895LeufsTer19
NM_000138.5:c.2681_2682insTTTAC MANE Select	NP_000129.3:p.Ile895LeufsTer19