Canonical Allele Identifier: CA2804067586

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422200_48422201insCCAAACACACCCAACAC , CM000677.2:g.48422200_48422201insCCAAACACACCCAACAC	GRCh38
NC_000015.9:g.48714397_48714398insCCAAACACACCCAACAC , CM000677.1:g.48714397_48714398insCCAAACACACCCAACAC	GRCh37
NC_000015.8:g.46501689_46501690insCCAAACACACCCAACAC	NCBI36
NG_008805.2:g.228588_228589insGTGTTGGGTGTGTTTGG , LRG_778:g.228588_228589insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-133_*262-132insGTGTTGGGTGTGTTTGG	ENSP00000453958.2:n.*262-133_*262-132insGTGTTGGGTGTGTTTGG
ENST00000674301.2:c.*967-133_*967-132insGTGTTGGGTGTGTTTGG	ENSP00000501333.2:n.*967-133_*967-132insGTGTTGGGTGTGTTTGG
ENST00000682170.1:n.1635-133_1635-132insGTGTTGGGTGTGTTTGG
ENST00000682767.1:n.751-133_751-132insGTGTTGGGTGTGTTTGG
ENST00000316623.10:c.7454-133_7454-132insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000325527.5:n.7454-133_7454-132insGTGTTGGGTGTGTTTGG
ENST00000674301.1:c.2620-133_2620-132insGTGTTGGGTGTGTTTGG	ENSP00000501333.1:n.2620-133_2620-132insGTGTTGGGTGTGTTTGG
ENST00000316623.9:c.7454-133_7454-132insGTGTTGGGTGTGTTTGG	ENSP00000325527.5:n.7454-133_7454-132insGTGTTGGGTGTGTTTGG
ENST00000559133.5:c.2823-133_2823-132insGTGTTGGGTGTGTTTGG
NM_000138.4:c.7454-133_7454-132insGTGTTGGGTGTGTTTGG , LRG_778t1:c.7454-133_7454-132insGTGTTGGGTGTGTTTGG	NP_000129.3:n.7454-133_7454-132insGTGTTGGGTGTGTTTGG
NM_000138.5:c.7454-133_7454-132insGTGTTGGGTGTGTTTGG MANE Select	NP_000129.3:n.7454-133_7454-132insGTGTTGGGTGTGTTTGG