Canonical Allele Identifier: CA2804071478

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468130_48468131insAACACACCCAAC , CM000677.2:g.48468130_48468131insAACACACCCAAC	GRCh38
NC_000015.9:g.48760327_48760328insAACACACCCAAC , CM000677.1:g.48760327_48760328insAACACACCCAAC	GRCh37
NC_000015.8:g.46547619_46547620insAACACACCCAAC	NCBI36
NG_008805.2:g.182658_182659insGTTGGGTGTGTT , LRG_778:g.182658_182659insGTTGGGTGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4583-29_4583-28insGTTGGGTGTGTT	ENSP00000453958.2:n.4583-29_4583-28insGTTGGGTGTGTT
ENST00000674301.2:c.4583-29_4583-28insGTTGGGTGTGTT	ENSP00000501333.2:n.4583-29_4583-28insGTTGGGTGTGTT
ENST00000684448.1:n.3257-29_3257-28insGTTGGGTGTGTT
ENST00000316623.10:c.4583-29_4583-28insGTTGGGTGTGTT MANE Select	ENSP00000325527.5:n.4583-29_4583-28insGTTGGGTGTGTT
ENST00000316623.9:c.4583-29_4583-28insGTTGGGTGTGTT	ENSP00000325527.5:n.4583-29_4583-28insGTTGGGTGTGTT
ENST00000537463.6:c.*346-29_*346-28insGTTGGGTGTGTT	ENSP00000440294.2:n.*346-29_*346-28insGTTGGGTGTGTT
NM_000138.4:c.4583-29_4583-28insGTTGGGTGTGTT , LRG_778t1:c.4583-29_4583-28insGTTGGGTGTGTT	NP_000129.3:n.4583-29_4583-28insGTTGGGTGTGTT
NM_000138.5:c.4583-29_4583-28insGTTGGGTGTGTT MANE Select	NP_000129.3:n.4583-29_4583-28insGTTGGGTGTGTT