Canonical Allele Identifier: CA2580089600

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456671_48456672delinsAA , CM000677.2:g.48456671_48456672delinsAA	GRCh38
NC_000015.9:g.48748868_48748869delinsAA , CM000677.1:g.48748868_48748869delinsAA	GRCh37
NC_000015.8:g.46536160_46536161delinsAA	NCBI36
NG_008805.2:g.194117_194118delinsTT , LRG_778:g.194117_194118delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5387_5388delinsTT MANE Select	NP_000129.3:p.Gly1796Val
ENST00000316623.10:c.5387_5388delinsTT MANE Select	ENSP00000325527.5:p.Gly1796Val
NM_000138.4:c.5387_5388delinsTT , LRG_778t1:c.5387_5388delinsTT	NP_000129.3:p.Gly1796Val
ENST00000316623.9:c.5387_5388delinsTT	ENSP00000325527.5:p.Gly1796Val
ENST00000537463.6:c.*1150_*1151delinsTT	ENSP00000440294.2:n.*1150_*1151delinsTT
ENST00000559133.5:c.694_695delinsTT
ENST00000559133.6:c.5387_5388delinsTT	ENSP00000453958.2:p.Gly1796Val
ENST00000674301.1:c.386_387delinsTT	ENSP00000501333.1:p.Gly129Val
ENST00000674301.2:c.5387_5388delinsTT	ENSP00000501333.2:p.Gly1796Val
ENST00000684448.1:n.4061_4062delinsTT