Canonical Allele Identifier: CA2175537601

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520739_48520740delinsAT , CM000677.2:g.48520739_48520740delinsAT	GRCh38
NC_000015.9:g.48812936_48812937delinsAT , CM000677.1:g.48812936_48812937delinsAT	GRCh37
NC_000015.8:g.46600228_46600229delinsAT	NCBI36
NG_008805.2:g.130049_130050delinsAT , LRG_778:g.130049_130050delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1066_1067delinsAT	ENSP00000453958.2:p.Met356=
ENST00000674301.2:c.1066_1067delinsAT	ENSP00000501333.2:p.Met356=
ENST00000316623.10:c.1066_1067delinsAT MANE Select	ENSP00000325527.5:p.Met356=
ENST00000316623.9:c.1066_1067delinsAT	ENSP00000325527.5:p.Met356=
ENST00000537463.6:c.636+16971_636+16972delinsAT	ENSP00000440294.2:n.636+16971_636+16972delinsAT
NM_000138.4:c.1066_1067delinsAT , LRG_778t1:c.1066_1067delinsAT	NP_000129.3:p.Met356=
NM_000138.5:c.1066_1067delinsAT MANE Select	NP_000129.3:p.Met356=