Canonical Allele Identifier: CA2175521538

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490026_48490027delinsCA , CM000677.2:g.48490026_48490027delinsCA	GRCh38
NC_000015.9:g.48782223_48782224delinsCA , CM000677.1:g.48782223_48782224delinsCA	GRCh37
NC_000015.8:g.46569515_46569516delinsCA	NCBI36
NG_008805.2:g.160762_160763delinsTG , LRG_778:g.160762_160763delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2906_2907delinsTG	ENSP00000453958.2:p.Leu969=
ENST00000674301.2:c.2906_2907delinsTG	ENSP00000501333.2:p.Leu969=
ENST00000684448.1:n.1580_1581delinsTG
ENST00000316623.10:c.2906_2907delinsTG MANE Select	ENSP00000325527.5:p.Leu969=
ENST00000316623.9:c.2906_2907delinsTG	ENSP00000325527.5:p.Leu969=
ENST00000537463.6:c.637-15377_637-15376delinsTG	ENSP00000440294.2:n.637-15377_637-15376delinsTG
NM_000138.4:c.2906_2907delinsTG , LRG_778t1:c.2906_2907delinsTG	NP_000129.3:p.Leu969=
NM_000138.5:c.2906_2907delinsTG MANE Select	NP_000129.3:p.Leu969=