Canonical Allele Identifier: CA2175492083

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472584_48472585delinsAG , CM000677.2:g.48472584_48472585delinsAG	GRCh38
NC_000015.9:g.48764781_48764782delinsAG , CM000677.1:g.48764781_48764782delinsAG	GRCh37
NC_000015.8:g.46552073_46552074delinsAG	NCBI36
NG_008805.2:g.178204_178205delinsCT , LRG_778:g.178204_178205delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4302_4303delinsCT	ENSP00000453958.2:p.Gly1434=
ENST00000674301.2:c.4302_4303delinsCT	ENSP00000501333.2:p.Gly1434=
ENST00000683268.1:n.269_270delinsCT
ENST00000684448.1:n.2976_2977delinsCT
ENST00000316623.10:c.4302_4303delinsCT MANE Select	ENSP00000325527.5:p.Gly1434=
ENST00000316623.9:c.4302_4303delinsCT	ENSP00000325527.5:p.Gly1434=
ENST00000537463.6:c.*65_*66delinsCT	ENSP00000440294.2:n.*65_*66delinsCT
NM_000138.4:c.4302_4303delinsCT , LRG_778t1:c.4302_4303delinsCT	NP_000129.3:p.Gly1434=
NM_000138.5:c.4302_4303delinsCT MANE Select	NP_000129.3:p.Gly1434=