Canonical Allele Identifier: CA2175492371

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445394_48445395delinsCT , CM000677.2:g.48445394_48445395delinsCT	GRCh38
NC_000015.9:g.48737591_48737592delinsCT , CM000677.1:g.48737591_48737592delinsCT	GRCh37
NC_000015.8:g.46524883_46524884delinsCT	NCBI36
NG_008805.2:g.205394_205395delinsAG , LRG_778:g.205394_205395delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5898_5899delinsAG	ENSP00000453958.2:p.Pro1966=
ENST00000674301.2:c.5898_5899delinsAG	ENSP00000501333.2:p.Pro1966=
ENST00000684448.1:n.4572_4573delinsAG
ENST00000316623.10:c.5898_5899delinsAG MANE Select	ENSP00000325527.5:p.Pro1966=
ENST00000674301.1:c.897_898delinsAG	ENSP00000501333.1:p.Pro299=
ENST00000316623.9:c.5898_5899delinsAG	ENSP00000325527.5:p.Pro1966=
ENST00000537463.6:c.*1661_*1662delinsAG	ENSP00000440294.2:n.*1661_*1662delinsAG
ENST00000559133.5:c.1205_1206delinsAG
ENST00000560820.1:n.18_19delinsAG
NM_000138.4:c.5898_5899delinsAG , LRG_778t1:c.5898_5899delinsAG	NP_000129.3:p.Pro1966=
NM_000138.5:c.5898_5899delinsAG MANE Select	NP_000129.3:p.Pro1966=