Canonical Allele Identifier: CA2175498511

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448867_48448868delinsTG , CM000677.2:g.48448867_48448868delinsTG	GRCh38
NC_000015.9:g.48741064_48741065delinsTG , CM000677.1:g.48741064_48741065delinsTG	GRCh37
NC_000015.8:g.46528356_46528357delinsTG	NCBI36
NG_008805.2:g.201921_201922delinsCA , LRG_778:g.201921_201922delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5571_5572delinsCA	ENSP00000453958.2:p.Pro1857=
ENST00000674301.2:c.5571_5572delinsCA	ENSP00000501333.2:p.Pro1857=
ENST00000684448.1:n.4245_4246delinsCA
ENST00000316623.10:c.5571_5572delinsCA MANE Select	ENSP00000325527.5:p.Pro1857=
ENST00000674301.1:c.570_571delinsCA	ENSP00000501333.1:p.Pro190=
ENST00000316623.9:c.5571_5572delinsCA	ENSP00000325527.5:p.Pro1857=
ENST00000537463.6:c.*1334_*1335delinsCA	ENSP00000440294.2:n.*1334_*1335delinsCA
ENST00000559133.5:c.878_879delinsCA
NM_000138.4:c.5571_5572delinsCA , LRG_778t1:c.5571_5572delinsCA	NP_000129.3:p.Pro1857=
NM_000138.5:c.5571_5572delinsCA MANE Select	NP_000129.3:p.Pro1857=