Canonical Allele Identifier: CA269528301

Gene: FBN1

Linked Data

• dbSNP Id: rs759006558

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487029_48487039delinsG , CM000677.2:g.48487029_48487039delinsG	GRCh38
NC_000015.9:g.48779226_48779236delinsG , CM000677.1:g.48779226_48779236delinsG	GRCh37
NC_000015.8:g.46566518_46566528delinsG	NCBI36
NG_008805.2:g.163750_163760delinsC , LRG_778:g.163750_163760delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+36_3589+46delinsC	ENSP00000453958.2:n.3589+36_3589+46delinsC
ENST00000674301.2:c.3589+36_3589+46delinsC	ENSP00000501333.2:n.3589+36_3589+46delinsC
ENST00000684448.1:n.2263+36_2263+46delinsC
ENST00000316623.10:c.3589+36_3589+46delinsC MANE Select	ENSP00000325527.5:n.3589+36_3589+46delinsC
ENST00000316623.9:c.3589+36_3589+46delinsC	ENSP00000325527.5:n.3589+36_3589+46delinsC
ENST00000537463.6:c.637-12389_637-12379delinsC	ENSP00000440294.2:n.637-12389_637-12379delinsC
NM_000138.4:c.3589+36_3589+46delinsC , LRG_778t1:c.3589+36_3589+46delinsC	NP_000129.3:n.3589+36_3589+46delinsC
NM_000138.5:c.3589+36_3589+46delinsC MANE Select	NP_000129.3:n.3589+36_3589+46delinsC