Canonical Allele Identifier: CA7547898

Gene: FBN1

Linked Data

• dbSNP Id: rs752325626
• ExAC: 15:48703339 GCTT / G
• gnomAD v2: 15-48703339-GCTT-G
• gnomAD v4: 15-48411142-GCTT-G
• MyVariant Identifiers: chr15:g.48703340_48703342del (hg19) ; chr15:g.48411143_48411145del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411149_48411151del , CM000677.2:g.48411149_48411151del	GRCh38
NC_000015.9:g.48703346_48703348del , CM000677.1:g.48703346_48703348del	GRCh37
NC_000015.8:g.46490638_46490640del	NCBI36
NG_008805.2:g.239644_239646del , LRG_778:g.239644_239646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1269_*1271del	ENSP00000453958.2:n.*1269_*1271del
ENST00000674301.2:c.*1974_*1976del	ENSP00000501333.2:n.*1974_*1976del
ENST00000682158.1:n.1842_1844del
ENST00000682170.1:n.2642_2644del
ENST00000682767.1:n.1758_1760del
ENST00000316623.10:c.8461_8463del MANE Select	ENSP00000325527.5:p.Lys2821del
ENST00000674301.1:c.3627_3629del	ENSP00000501333.1:n.3627_3629del
ENST00000316623.9:c.8461_8463del	ENSP00000325527.5:p.Lys2821del
ENST00000559133.5:c.3830_3832del
NM_000138.4:c.8461_8463del , LRG_778t1:c.8461_8463del	NP_000129.3:p.Lys2821del
NM_000138.5:c.8461_8463del MANE Select	NP_000129.3:p.Lys2821del