Canonical Allele Identifier: CA713379589

Gene: FBN1

Linked Data

• dbSNP Id: rs1207139819
• gnomAD v3: 15-48411499-CAATATTGAA-C
• gnomAD v4: 15-48411499-CAATATTGAA-C
• MyVariant Identifiers: chr15:g.48703697_48703705del (hg19) ; chr15:g.48411500_48411508del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411501_48411509del , CM000677.2:g.48411501_48411509del	GRCh38
NC_000015.9:g.48703698_48703706del , CM000677.1:g.48703698_48703706del	GRCh37
NC_000015.8:g.46490990_46490998del	NCBI36
NG_008805.2:g.239281_239289del , LRG_778:g.239281_239289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-129_*1035-121del	ENSP00000453958.2:n.*1035-129_*1035-121del
ENST00000674301.2:c.*1740-129_*1740-121del	ENSP00000501333.2:n.*1740-129_*1740-121del
ENST00000682158.1:n.1608-129_1608-121del
ENST00000682170.1:n.2408-129_2408-121del
ENST00000682767.1:n.1524-129_1524-121del
ENST00000316623.10:c.8227-129_8227-121del MANE Select	ENSP00000325527.5:n.8227-129_8227-121del
ENST00000674301.1:c.3393-129_3393-121del	ENSP00000501333.1:n.3393-129_3393-121del
ENST00000316623.9:c.8227-129_8227-121del	ENSP00000325527.5:n.8227-129_8227-121del
ENST00000559133.5:c.3596-129_3596-121del
ENST00000561429.1:n.482-129_482-121del
NM_000138.4:c.8227-129_8227-121del , LRG_778t1:c.8227-129_8227-121del	NP_000129.3:n.8227-129_8227-121del
NM_000138.5:c.8227-129_8227-121del MANE Select	NP_000129.3:n.8227-129_8227-121del