Canonical Allele Identifier: CA2175508681

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441744_48441745delinsGA , CM000677.2:g.48441744_48441745delinsGA	GRCh38
NC_000015.9:g.48733941_48733942delinsGA , CM000677.1:g.48733941_48733942delinsGA	GRCh37
NC_000015.8:g.46521233_46521234delinsGA	NCBI36
NG_008805.2:g.209044_209045delinsTC , LRG_778:g.209044_209045delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6139_6140delinsTC	ENSP00000453958.2:p.Ser2047=
ENST00000674301.2:c.6139_6140delinsTC	ENSP00000501333.2:p.Ser2047=
ENST00000316623.10:c.6139_6140delinsTC MANE Select	ENSP00000325527.5:p.Ser2047=
ENST00000674301.1:c.1138_1139delinsTC	ENSP00000501333.1:p.Ser380=
ENST00000316623.9:c.6139_6140delinsTC	ENSP00000325527.5:p.Ser2047=
ENST00000537463.6:c.*1902_*1903delinsTC	ENSP00000440294.2:n.*1902_*1903delinsTC
ENST00000559133.5:c.1446_1447delinsTC
ENST00000560820.1:n.259_260delinsTC
NM_000138.4:c.6139_6140delinsTC , LRG_778t1:c.6139_6140delinsTC	NP_000129.3:p.Ser2047=
NM_000138.5:c.6139_6140delinsTC MANE Select	NP_000129.3:p.Ser2047=