Canonical Allele Identifier: CA7547913

Gene: FBN1

Linked Data

• ClinVar Variation Id: 509388
• ClinVar RCV Id: RCV002063229
• dbSNP Id: rs779987733
• ExAC: 15:48740951 A / AATT
• gnomAD v3: 15-48448754-A-AATT
• gnomAD v4: 15-48448754-A-AATT
• MyVariant Identifiers: chr15:g.48740952_48740954dup (hg19) ; chr15:g.48740951_48740952insATT (hg19) ; chr15:g.48448755_48448757dup (hg38) ; chr15:g.48448754_48448755insATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448755_48448757dup , CM000677.2:g.48448755_48448757dup	GRCh38
NC_000015.9:g.48740952_48740954dup , CM000677.1:g.48740952_48740954dup	GRCh37
NC_000015.8:g.46528244_46528246dup	NCBI36
NG_008805.2:g.202032_202034dup , LRG_778:g.202032_202034dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5671+11_5671+13dup	ENSP00000453958.2:n.5671+11_5671+13dup
ENST00000674301.2:c.5671+11_5671+13dup	ENSP00000501333.2:n.5671+11_5671+13dup
ENST00000684448.1:n.4345+11_4345+13dup
ENST00000316623.10:c.5671+11_5671+13dup MANE Select	ENSP00000325527.5:n.5671+11_5671+13dup
ENST00000674301.1:c.670+11_670+13dup	ENSP00000501333.1:n.670+11_670+13dup
ENST00000316623.9:c.5671+11_5671+13dup	ENSP00000325527.5:n.5671+11_5671+13dup
ENST00000537463.6:c.*1434+11_*1434+13dup	ENSP00000440294.2:n.*1434+11_*1434+13dup
ENST00000559133.5:c.978+11_978+13dup
NM_000138.4:c.5671+11_5671+13dup , LRG_778t1:c.5671+11_5671+13dup	NP_000129.3:n.5671+11_5671+13dup
NM_000138.5:c.5671+11_5671+13dup MANE Select	NP_000129.3:n.5671+11_5671+13dup