Canonical Allele Identifier: CA2505040454

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422272_48422275del , CM000677.2:g.48422272_48422275del	GRCh38
NC_000015.9:g.48714469_48714472del , CM000677.1:g.48714469_48714472del	GRCh37
NC_000015.8:g.46501761_46501764del	NCBI36
NG_008805.2:g.228514_228517del , LRG_778:g.228514_228517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-207_*262-204del	ENSP00000453958.2:n.*262-207_*262-204del
ENST00000674301.2:c.*967-207_*967-204del	ENSP00000501333.2:n.*967-207_*967-204del
ENST00000682170.1:n.1635-207_1635-204del
ENST00000682767.1:n.751-207_751-204del
ENST00000316623.10:c.7454-207_7454-204del MANE Select	ENSP00000325527.5:n.7454-207_7454-204del
ENST00000674301.1:c.2620-207_2620-204del	ENSP00000501333.1:n.2620-207_2620-204del
ENST00000316623.9:c.7454-207_7454-204del	ENSP00000325527.5:n.7454-207_7454-204del
ENST00000559133.5:c.2823-207_2823-204del
NM_000138.4:c.7454-207_7454-204del , LRG_778t1:c.7454-207_7454-204del	NP_000129.3:n.7454-207_7454-204del
NM_000138.5:c.7454-207_7454-204del MANE Select	NP_000129.3:n.7454-207_7454-204del