Canonical Allele Identifier: CA2175508634

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441734_48441735delinsTC , CM000677.2:g.48441734_48441735delinsTC	GRCh38
NC_000015.9:g.48733931_48733932delinsTC , CM000677.1:g.48733931_48733932delinsTC	GRCh37
NC_000015.8:g.46521223_46521224delinsTC	NCBI36
NG_008805.2:g.209054_209055delinsGA , LRG_778:g.209054_209055delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6149_6150delinsGA	ENSP00000453958.2:p.Gly2050=
ENST00000674301.2:c.6149_6150delinsGA	ENSP00000501333.2:p.Gly2050=
ENST00000316623.10:c.6149_6150delinsGA MANE Select	ENSP00000325527.5:p.Gly2050=
ENST00000674301.1:c.1148_1149delinsGA	ENSP00000501333.1:p.Gly383=
ENST00000316623.9:c.6149_6150delinsGA	ENSP00000325527.5:p.Gly2050=
ENST00000537463.6:c.*1912_*1913delinsGA	ENSP00000440294.2:n.*1912_*1913delinsGA
ENST00000559133.5:c.1456_1457delinsGA
ENST00000560820.1:n.269_270delinsGA
NM_000138.4:c.6149_6150delinsGA , LRG_778t1:c.6149_6150delinsGA	NP_000129.3:p.Gly2050=
NM_000138.5:c.6149_6150delinsGA MANE Select	NP_000129.3:p.Gly2050=