Canonical Allele Identifier: CA2695220330

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520696_48520697insC , CM000677.2:g.48520696_48520697insC	GRCh38
NC_000015.9:g.48812893_48812894insC , CM000677.1:g.48812893_48812894insC	GRCh37
NC_000015.8:g.46600185_46600186insC	NCBI36
NG_008805.2:g.130092_130093insG , LRG_778:g.130092_130093insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1109_1110insG	ENSP00000453958.2:p.Thr371HisfsTer5
ENST00000674301.2:c.1109_1110insG	ENSP00000501333.2:p.Thr371HisfsTer5
ENST00000316623.10:c.1109_1110insG MANE Select	ENSP00000325527.5:p.Thr371HisfsTer5
ENST00000316623.9:c.1109_1110insG	ENSP00000325527.5:p.Thr371HisfsTer5
ENST00000537463.6:c.636+17014_636+17015insG	ENSP00000440294.2:n.636+17014_636+17015insG
NM_000138.4:c.1109_1110insG , LRG_778t1:c.1109_1110insG	NP_000129.3:p.Thr371HisfsTer5
NM_000138.5:c.1109_1110insG MANE Select	NP_000129.3:p.Thr371HisfsTer5