Canonical Allele Identifier: CA919548820

Gene: FBN1

Linked Data

• dbSNP Id: rs1597560508

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484186_48484187insTC , CM000677.2:g.48484186_48484187insTC	GRCh38
NC_000015.9:g.48776383_48776384insTC , CM000677.1:g.48776383_48776384insTC	GRCh37
NC_000015.8:g.46563675_46563676insTC	NCBI36
NG_008805.2:g.166602_166603insGA , LRG_778:g.166602_166603insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-244_3713-243insGA	ENSP00000453958.2:n.3713-244_3713-243insGA
ENST00000674301.2:c.3713-244_3713-243insGA	ENSP00000501333.2:n.3713-244_3713-243insGA
ENST00000684448.1:n.2387-244_2387-243insGA
ENST00000316623.10:c.3713-244_3713-243insGA MANE Select	ENSP00000325527.5:n.3713-244_3713-243insGA
ENST00000316623.9:c.3713-244_3713-243insGA	ENSP00000325527.5:n.3713-244_3713-243insGA
ENST00000537463.6:c.637-9537_637-9536insGA	ENSP00000440294.2:n.637-9537_637-9536insGA
NM_000138.4:c.3713-244_3713-243insGA , LRG_778t1:c.3713-244_3713-243insGA	NP_000129.3:n.3713-244_3713-243insGA
NM_000138.5:c.3713-244_3713-243insGA MANE Select	NP_000129.3:n.3713-244_3713-243insGA