Canonical Allele Identifier: CA2175537535

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520717_48520718delinsGC , CM000677.2:g.48520717_48520718delinsGC	GRCh38
NC_000015.9:g.48812914_48812915delinsGC , CM000677.1:g.48812914_48812915delinsGC	GRCh37
NC_000015.8:g.46600206_46600207delinsGC	NCBI36
NG_008805.2:g.130071_130072delinsGC , LRG_778:g.130071_130072delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1088_1089delinsGC	ENSP00000453958.2:p.Gly363=
ENST00000674301.2:c.1088_1089delinsGC	ENSP00000501333.2:p.Gly363=
ENST00000316623.10:c.1088_1089delinsGC MANE Select	ENSP00000325527.5:p.Gly363=
ENST00000316623.9:c.1088_1089delinsGC	ENSP00000325527.5:p.Gly363=
ENST00000537463.6:c.636+16993_636+16994delinsGC	ENSP00000440294.2:n.636+16993_636+16994delinsGC
NM_000138.4:c.1088_1089delinsGC , LRG_778t1:c.1088_1089delinsGC	NP_000129.3:p.Gly363=
NM_000138.5:c.1088_1089delinsGC MANE Select	NP_000129.3:p.Gly363=