Canonical Allele Identifier: CA2175518262

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468077_48468078delinsCA , CM000677.2:g.48468077_48468078delinsCA	GRCh38
NC_000015.9:g.48760274_48760275delinsCA , CM000677.1:g.48760274_48760275delinsCA	GRCh37
NC_000015.8:g.46547566_46547567delinsCA	NCBI36
NG_008805.2:g.182711_182712delinsTG , LRG_778:g.182711_182712delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4607_4608delinsTG	ENSP00000453958.2:p.Leu1536=
ENST00000674301.2:c.4607_4608delinsTG	ENSP00000501333.2:p.Leu1536=
ENST00000684448.1:n.3281_3282delinsTG
ENST00000316623.10:c.4607_4608delinsTG MANE Select	ENSP00000325527.5:p.Leu1536=
ENST00000316623.9:c.4607_4608delinsTG	ENSP00000325527.5:p.Leu1536=
ENST00000537463.6:c.*370_*371delinsTG	ENSP00000440294.2:n.*370_*371delinsTG
NM_000138.4:c.4607_4608delinsTG , LRG_778t1:c.4607_4608delinsTG	NP_000129.3:p.Leu1536=
NM_000138.5:c.4607_4608delinsTG MANE Select	NP_000129.3:p.Leu1536=