Canonical Allele Identifier: CA2175489424

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415696_48415700delinsACTTG , CM000677.2:g.48415696_48415700delinsACTTG	GRCh38
NC_000015.9:g.48707893_48707897delinsACTTG , CM000677.1:g.48707893_48707897delinsACTTG	GRCh37
NC_000015.8:g.46495185_46495189delinsACTTG	NCBI36
NG_008805.2:g.235089_235093delinsCAAGT , LRG_778:g.235089_235093delinsCAAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*695_*699delinsCAAGT	ENSP00000453958.2:n.*695_*699delinsCAAGT
ENST00000674301.2:c.*1400_*1404delinsCAAGT	ENSP00000501333.2:n.*1400_*1404delinsCAAG...
ENST00000682158.1:n.1268_1272delinsCAAGT
ENST00000682170.1:n.2068_2072delinsCAAGT
ENST00000682767.1:n.1184_1188delinsCAAGT
ENST00000316623.10:c.7887_7891delinsCAAGT MANE Select	ENSP00000325527.5:p.Tyr2629=
ENST00000674301.1:c.3053_3057delinsCAAGT	ENSP00000501333.1:n.3053_3057delinsCAAGT
ENST00000316623.9:c.7887_7891delinsCAAGT	ENSP00000325527.5:p.Tyr2629=
ENST00000559133.5:c.3256_3260delinsCAAGT
ENST00000561429.1:n.142_146delinsCAAGT
NM_000138.4:c.7887_7891delinsCAAGT , LRG_778t1:c.7887_7891delinsCAAGT	NP_000129.3:p.Tyr2629=
NM_000138.5:c.7887_7891delinsCAAGT MANE Select	NP_000129.3:p.Tyr2629=