Canonical Allele Identifier: CA2175492697

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445468_48445470delinsCAA , CM000677.2:g.48445468_48445470delinsCAA	GRCh38
NC_000015.9:g.48737665_48737667delinsCAA , CM000677.1:g.48737665_48737667delinsCAA	GRCh37
NC_000015.8:g.46524957_46524959delinsCAA	NCBI36
NG_008805.2:g.205319_205321delinsTTG , LRG_778:g.205319_205321delinsTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5823_5825delinsTTG	ENSP00000453958.2:p.Leu1941=
ENST00000674301.2:c.5823_5825delinsTTG	ENSP00000501333.2:p.Leu1941=
ENST00000684448.1:n.4497_4499delinsTTG
ENST00000316623.10:c.5823_5825delinsTTG MANE Select	ENSP00000325527.5:p.Leu1941=
ENST00000674301.1:c.822_824delinsTTG	ENSP00000501333.1:p.Leu274=
ENST00000316623.9:c.5823_5825delinsTTG	ENSP00000325527.5:p.Leu1941=
ENST00000537463.6:c.*1586_*1588delinsTTG	ENSP00000440294.2:n.*1586_*1588delinsTTG
ENST00000559133.5:c.1130_1132delinsTTG
NM_000138.4:c.5823_5825delinsTTG , LRG_778t1:c.5823_5825delinsTTG	NP_000129.3:p.Leu1941=
NM_000138.5:c.5823_5825delinsTTG MANE Select	NP_000129.3:p.Leu1941=