Canonical Allele Identifier: CA2175496891

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434599_48434601delinsCAT , CM000677.2:g.48434599_48434601delinsCAT	GRCh38
NC_000015.9:g.48726796_48726798delinsCAT , CM000677.1:g.48726796_48726798delinsCAT	GRCh37
NC_000015.8:g.46514088_46514090delinsCAT	NCBI36
NG_008805.2:g.216188_216190delinsATG , LRG_778:g.216188_216190delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6609_6611delinsATG	ENSP00000453958.2:p.Thr2203=
ENST00000674301.2:c.6609_6611delinsATG	ENSP00000501333.2:p.Thr2203=
ENST00000682170.1:n.218_220delinsATG
ENST00000316623.10:c.6609_6611delinsATG MANE Select	ENSP00000325527.5:p.Thr2203=
ENST00000674301.1:c.1608_1610delinsATG	ENSP00000501333.1:p.Thr536=
ENST00000316623.9:c.6609_6611delinsATG	ENSP00000325527.5:p.Thr2203=
ENST00000537463.6:c.*2372_*2374delinsATG	ENSP00000440294.2:n.*2372_*2374delinsATG
ENST00000559133.5:c.1916_1918delinsATG
NM_000138.4:c.6609_6611delinsATG , LRG_778t1:c.6609_6611delinsATG	NP_000129.3:p.Thr2203=
NM_000138.5:c.6609_6611delinsATG MANE Select	NP_000129.3:p.Thr2203=