Canonical Allele Identifier: CA269521684

Gene: FBN1

Linked Data

• dbSNP Id: rs796608880
• gnomAD v3: 15-48428072-TAC-T
• gnomAD v4: 15-48428072-TAC-T
• MyVariant Identifiers: chr15:g.48720270_48720271del (hg19) ; chr15:g.48428073_48428074del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428073_48428074del , CM000677.2:g.48428073_48428074del	GRCh38
NC_000015.9:g.48720270_48720271del , CM000677.1:g.48720270_48720271del	GRCh37
NC_000015.8:g.46507562_46507563del	NCBI36
NG_008805.2:g.222715_222716del , LRG_778:g.222715_222716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-131_6998-130del	ENSP00000453958.2:n.6998-131_6998-130del
ENST00000674301.2:c.*449-131_*449-130del	ENSP00000501333.2:n.*449-131_*449-130del
ENST00000682170.1:n.878_879del
ENST00000682767.1:n.233-131_233-130del
ENST00000316623.10:c.6997+272_6997+273del MANE Select	ENSP00000325527.5:n.6997+272_6997+273del
ENST00000674301.1:c.2102-131_2102-130del	ENSP00000501333.1:n.2102-131_2102-130del
ENST00000316623.9:c.6997+272_6997+273del	ENSP00000325527.5:n.6997+272_6997+273del
ENST00000559133.5:c.2305-131_2305-130del
ENST00000560720.1:n.556_557del
NM_000138.4:c.6997+272_6997+273del , LRG_778t1:c.6997+272_6997+273del	NP_000129.3:n.6997+272_6997+273del
NM_000138.5:c.6997+272_6997+273del MANE Select	NP_000129.3:n.6997+272_6997+273del