Canonical Allele Identifier: CA2804071447

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487237_48487238insCCCAACAC , CM000677.2:g.48487237_48487238insCCCAACAC	GRCh38
NC_000015.9:g.48779434_48779435insCCCAACAC , CM000677.1:g.48779434_48779435insCCCAACAC	GRCh37
NC_000015.8:g.46566726_46566727insCCCAACAC	NCBI36
NG_008805.2:g.163551_163552insGTGTTGGG , LRG_778:g.163551_163552insGTGTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3464-38_3464-37insGTGTTGGG	ENSP00000453958.2:n.3464-38_3464-37insGTGTTGGG
ENST00000674301.2:c.3464-38_3464-37insGTGTTGGG	ENSP00000501333.2:n.3464-38_3464-37insGTGTTGGG
ENST00000684448.1:n.2138-38_2138-37insGTGTTGGG
ENST00000316623.10:c.3464-38_3464-37insGTGTTGGG MANE Select	ENSP00000325527.5:n.3464-38_3464-37insGTGTTGGG
ENST00000316623.9:c.3464-38_3464-37insGTGTTGGG	ENSP00000325527.5:n.3464-38_3464-37insGTGTTGGG
ENST00000537463.6:c.637-12588_637-12587insGTGTTGGG	ENSP00000440294.2:n.637-12588_637-12587insGTGTTGGG
NM_000138.4:c.3464-38_3464-37insGTGTTGGG , LRG_778t1:c.3464-38_3464-37insGTGTTGGG	NP_000129.3:n.3464-38_3464-37insGTGTTGGG
NM_000138.5:c.3464-38_3464-37insGTGTTGGG MANE Select	NP_000129.3:n.3464-38_3464-37insGTGTTGGG