Canonical Allele Identifier: CA2175492451

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472659_48472661delinsCAG , CM000677.2:g.48472659_48472661delinsCAG	GRCh38
NC_000015.9:g.48764856_48764858delinsCAG , CM000677.1:g.48764856_48764858delinsCAG	GRCh37
NC_000015.8:g.46552148_46552150delinsCAG	NCBI36
NG_008805.2:g.178128_178130delinsCTG , LRG_778:g.178128_178130delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4226_4228delinsCTG	ENSP00000453958.2:p.Ser1409=
ENST00000674301.2:c.4226_4228delinsCTG	ENSP00000501333.2:p.Ser1409=
ENST00000683268.1:n.193_195delinsCTG
ENST00000684448.1:n.2900_2902delinsCTG
ENST00000316623.10:c.4226_4228delinsCTG MANE Select	ENSP00000325527.5:p.Ser1409=
ENST00000316623.9:c.4226_4228delinsCTG	ENSP00000325527.5:p.Ser1409=
ENST00000537463.6:c.898_900delinsCTG	ENSP00000440294.2:p.Leu300=
NM_000138.4:c.4226_4228delinsCTG , LRG_778t1:c.4226_4228delinsCTG	NP_000129.3:p.Ser1409=
NM_000138.5:c.4226_4228delinsCTG MANE Select	NP_000129.3:p.Ser1409=