Canonical Allele Identifier: CA2175465112

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422272_48422273delinsCA , CM000677.2:g.48422272_48422273delinsCA	GRCh38
NC_000015.9:g.48714469_48714470delinsCA , CM000677.1:g.48714469_48714470delinsCA	GRCh37
NC_000015.8:g.46501761_46501762delinsCA	NCBI36
NG_008805.2:g.228516_228517delinsTG , LRG_778:g.228516_228517delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-205_*262-204delinsTG	ENSP00000453958.2:n.*262-205_*262-204delinsTG
ENST00000674301.2:c.*967-205_*967-204delinsTG	ENSP00000501333.2:n.*967-205_*967-204delinsTG
ENST00000682170.1:n.1635-205_1635-204delinsTG
ENST00000682767.1:n.751-205_751-204delinsTG
ENST00000316623.10:c.7454-205_7454-204delinsTG MANE Select	ENSP00000325527.5:n.7454-205_7454-204delinsTG
ENST00000674301.1:c.2620-205_2620-204delinsTG	ENSP00000501333.1:n.2620-205_2620-204delinsTG
ENST00000316623.9:c.7454-205_7454-204delinsTG	ENSP00000325527.5:n.7454-205_7454-204delinsTG
ENST00000559133.5:c.2823-205_2823-204delinsTG
NM_000138.4:c.7454-205_7454-204delinsTG , LRG_778t1:c.7454-205_7454-204delinsTG	NP_000129.3:n.7454-205_7454-204delinsTG
NM_000138.5:c.7454-205_7454-204delinsTG MANE Select	NP_000129.3:n.7454-205_7454-204delinsTG