Canonical Allele Identifier: CA2533019924

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422276_48422277insTGTTTT , CM000677.2:g.48422276_48422277insTGTTTT	GRCh38
NC_000015.9:g.48714473_48714474insTGTTTT , CM000677.1:g.48714473_48714474insTGTTTT	GRCh37
NC_000015.8:g.46501765_46501766insTGTTTT	NCBI36
NG_008805.2:g.228512_228513insAAAACA , LRG_778:g.228512_228513insAAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-209_*262-208insAAAACA	ENSP00000453958.2:n.*262-209_*262-208insAAAACA
ENST00000674301.2:c.*967-209_*967-208insAAAACA	ENSP00000501333.2:n.*967-209_*967-208insAAAACA
ENST00000682170.1:n.1635-209_1635-208insAAAACA
ENST00000682767.1:n.751-209_751-208insAAAACA
ENST00000316623.10:c.7454-209_7454-208insAAAACA MANE Select	ENSP00000325527.5:n.7454-209_7454-208insAAAACA
ENST00000674301.1:c.2620-209_2620-208insAAAACA	ENSP00000501333.1:n.2620-209_2620-208insAAAACA
ENST00000316623.9:c.7454-209_7454-208insAAAACA	ENSP00000325527.5:n.7454-209_7454-208insAAAACA
ENST00000559133.5:c.2823-209_2823-208insAAAACA
NM_000138.4:c.7454-209_7454-208insAAAACA , LRG_778t1:c.7454-209_7454-208insAAAACA	NP_000129.3:n.7454-209_7454-208insAAAACA
NM_000138.5:c.7454-209_7454-208insAAAACA MANE Select	NP_000129.3:n.7454-209_7454-208insAAAACA